"SMPDB ID","Pathway Name",References SMP00001,"Citrullinemia Type I","# ""eMedicine: Article 942435"":http://emedicine.medscape.com/article/942435-overview # ""OMIM: Entry 215700"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215700 # ""Uniprot: P00966"":http://www.uniprot.org/uniprot/P00966 # Walser, M. _Urea cycle disorders and other hereditary hyperammonemic syndromes_. (1983). Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.; Goldstein, J. L.; Brown, M. S. _The Metabolic Basis of Inherited Disease_. (pp 402-483) (5th ed). New York: McGraw-Hill. # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 35) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # MCMURRAY WC, RATHBUN JC, MOHYUDDIN F, KOEGLER SJ: CITRULLINURIA. Pediatrics. 1963 Sep;32:347-57. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/14063512 # Northrup H, Lathrop M, Lu SY, Daiger SP, Beaudet AL, O'Brien WE: Multilocus linkage analysis with the human argininosuccinate synthetase gene. Genomics. 1989 Oct;5(3):442-4. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2575581 # Saheki T, Ueda A, Hosoya M, Kusumi K, Takada S, Tsuda M, Katsunuma T: Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia. Clin Chim Acta. 1981 Feb 5;109(3):325-35. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6784969" SMP00002,"Carbamoyl Phosphate Synthetase Deficiency","# ""Uniprot: P31327"":http://www.uniprot.org/uniprot/P31327 # ""OMIM: Entry 237300"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=237300 # ""eMedicine: Article 942159-overview"":http://emedicine.medscape.com/article/942159-overview # Hoshide R, Matsuura T, Haraguchi Y, Endo F, Yoshinaga M, Matsuda I: Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing. J Clin Invest. 1993 May;91(5):1884-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8486760 # McReynolds JW, Crowley B, Mahoney MJ, Rosenberg LE: Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency. Am J Hum Genet. 1981 May;33(3):345-53. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7246541 # Finckh U, Kohlschutter A, Schafer H, Sperhake K, Colombo JP, Gal A: Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. Hum Mutat. 1998;12(3):206-11. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9711878" SMP00003,"Argininosuccinic Aciduria","# ""OMIM: Entry 207900"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=207900 # ""Uniprot: P04424"":http://www.uniprot.org/uniprot/P04424 # ""Wikipedia: Argininosuccinic aciduria"":http://en.wikipedia.org/wiki/Argininosuccinic_aciduria # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 30) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Kleijer WJ, Garritsen VH, Linnebank M, Mooyer P, Huijmans JG, Mustonen A, Simola KO, Arslan-Kirchner M, Battini R, Briones P, Cardo E, Mandel H, Tschiedel E, Wanders RJ, Koch HG: Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. J Inherit Metab Dis. 2002 Sep;25(5):399-410. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12408190 # Levin B: Arginosuccine aciduria. Am J Dis Child. 1967 Jan;113(1):162-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6015896 # Linnebank M, Tschiedel E, Haberle J, Linnebank A, Willenbring H, Kleijer WJ, Koch HG: Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. Hum Genet. 2002 Oct;111(4-5):350-9. Epub 2002 Aug 14. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12384776" SMP00004,"Glycine, Serine and Threonine Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00005,"Folate and Pterine Biosynthesis","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00006,"Tyrosine Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00007,"Beta-Alanine Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00008,"Phenylalanine and Tyrosine Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00009,"Ammonia Recycling","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00010,"Nucleotide Sugars Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00011,"Inositol Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00012,"Catecholamine Biosynthesis","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00013,"Cysteine Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00015,"Glutathione Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00016,"Propanoate Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00017,"Vitamin B6 Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00018,"Alpha Linolenic Acid and Linoleic Acid Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub. # Vance, D.E., and Vance, J.E. (2002) _Biochemistry of lipids, lipoproteins, and membranes_ (4 ^th^ ed.) Amsterdam ; Boston : Elsevier." SMP00019,Transcription/Translation,"# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00020,"Arginine and Proline Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00021,"Taurine and Hypotaurine Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00023,"Steroid Biosynthesis","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Norman, A.W, and Litwack, G. (1997) _Hormones_ (2 ^nd^ ed.). San Diego : Academic Press. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub. # Vance, D.E., and Vance, J.E. (2002) _Biochemistry of lipids, lipoproteins, and membranes_ (4 ^th^ ed.) Amsterdam ; Boston : Elsevier." SMP00025,"Phospholipid Biosynthesis","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub. # Vance, D.E., and Vance, J.E. (2002) _Biochemistry of lipids, lipoproteins, and membranes_ (4 ^th^ ed.) Amsterdam ; Boston : Elsevier." SMP00027,"Pantothenate and CoA Biosynthesis","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00028,"Caffeine Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00029,"Selenoamino Acid Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00030,"Oxidation of Branched Chain Fatty Acids","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00031,"Pentose Phosphate Pathway","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00032,"Valine, Leucine and Isoleucine Degradation","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00033,"Methionine Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00034,"Sphingolipid Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub. # Vance, D.E., and Vance, J.E. (2002) _Biochemistry of lipids, lipoproteins, and membranes_ (4 ^th^ ed.) Amsterdam ; Boston : Elsevier." SMP00035,"Bile Acid Biosynthesis","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Lodish, H., _et al_. (2004) _Molecular cell biology_. New York: W.H Freeman. # Vance, D.E., and Vance, J.E. (2002) _Biochemistry of lipids, lipoproteins, and membranes_ (4 ^th^ ed.) Amsterdam ; Boston : Elsevier. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00036,"D-Arginine and D-Ornithine Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00037,"Lysine Degradation","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00039,"Glycerolipid Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub. # Vance, D.E., and Vance, J.E. (2002) _Biochemistry of lipids, lipoproteins, and membranes_ (4 ^th^ ed.) Amsterdam ; Boston : Elsevier." SMP00040,Glycolysis,"# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00041,"Sulfate/Sulfite Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00043,"Galactose Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00044,"Histidine Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00045,"Amino Sugar Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00046,"Pyrimidine Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00048,"Nicotinate and Nicotinamide Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00050,"Purine Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass.: Blackwell Pub." SMP00051,"Fatty acid Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Lodish, H., _et al_. (2004) _Molecular cell biology_. New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub. # Vance, D.E., and Vance, J.E. (2002) _Biochemistry of lipids, lipoproteins, and membranes_ (4 ^th^ ed.) Amsterdam ; Boston : Elsevier." SMP00052,"Beta Oxidation of Very Long Chain Fatty Acids","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Lodish, H., _et al_. (2004) _Molecular cell biology_. New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub. # Vance, D.E., and Vance, J.E. (2002) _Biochemistry of lipids, lipoproteins, and membranes_ (4 ^th^ ed.) Amsterdam ; Boston : Elsevier. # Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00053,"One Carbon Pool By Folate","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00054,"Fatty Acid Elongation In Mitochondria","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Lodish, H., _et al_. (2004) _Molecular cell biology_. New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub. # Vance, D.E., and Vance, J.E. (2002) _Biochemistry of lipids, lipoproteins, and membranes_ (4 ^th^ ed.) Amsterdam ; Boston : Elsevier." SMP00055,"Alanine Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00057,"Citric Acid Cycle","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00058,"Starch and Sucrose Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00059,"Urea Cycle","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00060,"Pyruvate Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00063,"Tryptophan Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00064,"Fructose and Mannose Degradation","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00065,"Ubiquinone Biosynthesis","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00066,"Biotin Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00067,"Aspartate Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00068,"Androgen and Estrogen Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub. # Norman, A.W, and Litwack, G. (1997) _Hormones_ (2 ^nd^ ed.). San Diego : Academic Press." SMP00070,"Riboflavin Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00071,"Ketone Body Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00072,"Glutamate Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00073,"Butyrate Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00074,"Retinol Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00075,"Arachidonic Acid Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Vance, D.E., and Vance, J.E. (2002) _Biochemistry of lipids, lipoproteins, and membranes_ (4 ^th^ ed.) Amsterdam ; Boston : Elsevier. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00076,"Thiamine Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00077,"Piroxicam Pathway","# Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer." SMP00078,"Chlorothiazide Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541" SMP00079,"Ibandronate Pathway","# Reszka, A.A., & Rodan, G.A. (2003). Bisphosphonate mechanism of action. _Curr Rheumatol Rep, 5_(1), 65-74. ""PMID: 12590887"":http://www.ncbi.nlm.nih.gov/pubmed/12590887 # Seibel, M.J. (2004). Bone metabolism. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 190-197). Berlin, Germany: Springer." SMP00080,"Polythiazide Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541" SMP00081,"Methyclothiazide Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541" SMP00083,"Acetylsalicylic Acid Pathway","# Aspirin. (2009). [Electronic version]. e-CPS. Retrieved August 15, 2009. # Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer. # Offermanns, S. (2004). Antiplatelet drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 106-109). Berlin, Germany: Springer." SMP00084,"Etodolac Pathway","# Apo-Etodolac. (2009). [Electronic version]. e-CPS. Retrieved August 15, 2009. # Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer. # Offermanns, S. (2004). Antiplatelet drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 106-109). Berlin, Germany: Springer." SMP00085,"Ketoprofen Pathway","# Apo-Keto/Apo-Keto-E/Apo-Keto SR. (2009). [Electronic version]. e-CPS. Retrieved August 15, 2009. # Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer." SMP00086,"Ibuprofen Pathway","# Advil. (2009). [Electronic version]. e-CPS. Retrieved August 15, 2009. # Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer." SMP00087,"Rofecoxib Pathway","# Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer. # Offermanns, S. (2004). Antiplatelet drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 106-109). Berlin, Germany: Springer." SMP00088,"Bumetanide Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Burinex. (2009). [Electronic version]. e-CPS. Retrieved July 1, 2009. # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541" SMP00089,"Pravastatin Pathway","# Pravachol. (2009). [Electronic version]. e-CPS. Retrieved June 30, 2009. # Reszka, A.A., & Rodan, G.A. (2003). Bisphosphonate mechanism of action. _Current Rheumatology Reports, 5_(1), 65-74. ""PMID: 12590887"":http://www.ncbi.nlm.nih.gov/pubmed/12590887 # Schmidt, E.B., & Larsen, M.L. (2004). HMG-CoA-reductase-inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 460-463). Berlin, Germany: Springer." SMP00090,"Bendroflumethiazide Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541" SMP00091,"Quinethazone Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541" SMP00092,"Rosuvastatin Pathway","# Crestor. (2009). [Electronic version]. e-CPS. Retrieved June 30, 2009. # Reszka, A.A., & Rodan, G.A. (2003). Bisphosphonate mechanism of action. _Current Rheumatology Reports, 5_(1), 65-74. ""PMID: 12590887"":http://www.ncbi.nlm.nih.gov/pubmed/12590887 # Schmidt, E.B., & Larsen, M.L. (2004). HMG-CoA-reductase-inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 460-463). Berlin, Germany: Springer." SMP00093,"Diclofenac Pathway","# Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer. # Voltaren/Voltaren SR. (2009). [Electronic version]. e-CPS. Retrieved August 15, 2009." SMP00094,"Sulindac Pathway","# Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer." SMP00095,"Alendronate pathway","# Reszka, A.A., & Rodan, G.A. (2003). Bisphosphonate mechanism of action. _Current Rheumatology Reports, 5_(1), 65-74. ""PMID: 12590887"":http://www.ncbi.nlm.nih.gov/pubmed/12590887 # Seibel, M.J. (2004). Bone metabolism. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 190-197). Berlin, Germany: Springer." SMP00096,"Celecoxib Pathway","# Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Celebrex. (2009). [Electronic version]. e-CPS. Retrieved August 15, 2009. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer. # Offermanns, S. (2004). Antiplatelet drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 106-109). Berlin, Germany: Springer." SMP00097,"Ethacrynic Acid pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541 # Edecrin/Sodium edecrin. (2009). [Electronic version]. e-CPS. Retrieved July 4, 2009." SMP00098,"Ketorolac Pathway","# Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer. # Ketorolac (CPhA Monograph). (2009). [Electronic version]. e-CPS. Retrieved August 15, 2009." SMP00099,"Lovastatin Pathway","# Mevacor. (2009). [Electronic version]. e-CPS. Retrieved June 30, 2009. # Reszka, A.A., & Rodan, G.A. (2003). Bisphosphonate mechanism of action. _Current Rheumatology Reports, 5_(1), 65-74. ""PMID: 12590887"":http://www.ncbi.nlm.nih.gov/pubmed/12590887 # Schmidt, E.B., & Larsen, M.L. (2004). HMG-CoA-reductase-inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 460-463). Berlin, Germany: Springer." SMP00100,"Hydrochlorothiazide Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541 # Thiazide diuretics. (2009). [Electronic version]. e-CPS. Retrieved June 5, 2009." SMP00101,"Suprofen Pathway","# Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer." SMP00102,"Bromfenac Pathway","# Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer." SMP00103,"Cyclothiazide Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541" SMP00104,"Indomethacin Pathway","# Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer. # Indomethacin (CPhA monograph). (2009). [Electronic version]. e-CPS. Retrieved August 15, 2009." SMP00105,"Metolazone Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541 # Thiazide diuretics. (2009). [Electronic version]. e-CPS. Retrieved June 5, 2009." SMP00106,"Meloxicam Pathway","# Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer. # Mobicox. (2009). [Electronic version]. e-CPS. Retrieved August 15, 2009. # Offermanns, S. (2004). Antiplatelet drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 106-109). Berlin, Germany: Springer." SMP00107,"Zoledronate Pathway","# Reszka, A.A., & Rodan, G.A. (2003). Bisphosphonate mechanism of action. _Current Rheumatology Reports, 5_(1), 65-74. ""PMID: 12590887"":http://www.ncbi.nlm.nih.gov/pubmed/12590887 # Seibel, M.J. (2004). Bone metabolism. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 190-197). Berlin, Germany: Springer." SMP00108,"Hydroflumethiazide Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541" SMP00109,"Mefanamic acid Pathway","# Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer." SMP00110,"Indapamide Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541 # Thiazide diuretics. (2009). [Electronic version]. e-CPS. Retrieved June 5, 2009." SMP00111,"Cerivastatin Pathway","# Reszka, A.A., & Rodan, G.A. (2003). Bisphosphonate mechanism of action. _Current Rheumatology Reports, 5_(1), 65-74. ""PMID: 12590887"":http://www.ncbi.nlm.nih.gov/pubmed/12590887 # Schmidt, E.B., & Larsen, M.L. (2004). HMG-CoA-reductase-inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 460-463). Berlin, Germany: Springer." SMP00112,"Risedronate Pathway","# Reszka, A.A., & Rodan, G.A. (2003). Bisphosphonate mechanism of action. _Current Rheumatology Reports, 5_(1), 65-74. ""PMID: 12590887"":http://www.ncbi.nlm.nih.gov/pubmed/12590887 # Seibel, M.J. (2004). Bone metabolism. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 190-197). Berlin, Germany: Springer." SMP00113,"Oxaprozin Pathway","# Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Daypro. (2009). [Electronic version]. e-CPS. Retrieved August 15, 2009. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer." SMP00114,"Nabumetone Pathway","# Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer." SMP00115,"Furosemide Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541 # Lasix. (2009). [Electronic version]. e-CPS. Retrieved June 4, 2009." SMP00116,"Valdecoxib Pathway","# Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer. # Offermanns, S. (2004). Antiplatelet drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 106-109). Berlin, Germany: Springer." SMP00117,"Pamidronate Pathway","# Reszka, A.A., & Rodan, G.A. (2003). Bisphosphonate mechanism of action. _Current Rheumatology Reports, 5_(1), 65-74. ""PMID: 12590887"":http://www.ncbi.nlm.nih.gov/pubmed/12590887 # Seibel, M.J. (2004). Bone metabolism. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 190-197). Berlin, Germany: Springer." SMP00118,"Torsemide Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541" SMP00119,"Fluvastatin Pathway","# Lescol/Lescol XL. (2009). [Electronic version]. e-CPS. Retrieved June 30, 2009. # Reszka, A.A., & Rodan, G.A. (2003). Bisphosphonate mechanism of action. _Current Rheumatology Reports, 5_(1), 65-74. ""PMID: 12590887"":http://www.ncbi.nlm.nih.gov/pubmed/12590887 # Schmidt, E.B., & Larsen, M.L. (2004). HMG-CoA-reductase-inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 460-463). Berlin, Germany: Springer." SMP00120,"Naproxen Pathway","# Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer." SMP00121,"Trichlormethiazide Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541" SMP00122,"Chlorthalidone Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541 # Thiazide diuretics. (2009). [Electronic version]. e-CPS. Retrieved June 5, 2009." SMP00123,"Betaine Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00124,"Glycerol Phosphate Shuttle","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00126,"Phenylacetate Metabolism","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00127,"Glucose-Alanine Cycle","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00128,Gluconeogenesis,"# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00129,"Malate-Aspartate Shuttle","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00130,Steroidogenesis,"# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Norman, A.W, and Litwack, G. (1997) _Hormones_ (2 ^nd^ ed.). San Diego : Academic Press. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub. # Vance, D.E., and Vance, J.E. (2002) _Biochemistry of lipids, lipoproteins, and membranes_ (4 ^th^ ed.) Amsterdam ; Boston : Elsevier." SMP00131,"Atorvastatin Pathway","# Lipitor. (2009). [Electronic version]. e-CPS. Retrieved June 30, 2009. # Reszka, A.A., & Rodan, G.A. (2003). Bisphosphonate mechanism of action. _Current Rheumatology Reports, 5_(1), 65-74. ""PMID: 12590887"":http://www.ncbi.nlm.nih.gov/pubmed/12590887 # Schmidt, E.B., & Larsen, M.L. (2004). HMG-CoA-reductase-inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 460-463). Berlin, Germany: Springer." SMP00132,"Triamterene Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541" SMP00133,"Amiloride Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541" SMP00134,"Spironolactone Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541" SMP00135,"Eplerenone Pathway","# Brater, D.C. (2000). Pharmacology of diuretics. _American Journal of Medical Sciences, 319_(1), 38-50. ""PMID: 10653443"":http://www.ncbi.nlm.nih.gov/pubmed/10653443 # Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. _Drugs, 9_(3), 178-226. ""PMID: 1092541"":http://www.ncbi.nlm.nih.gov/pubmed/1092541" SMP00136,"2-Hydroxyglutric Aciduria (D And L Form)","# ""Metagene: id_d=256"":http://www.metagene.de/program/d.prg?id_d=256 # ""Metagene: id_d=281"":http://www.metagene.de/program/d.prg?id_d=281 # Fernandes, J., Saudubray, J., Van Den Berghe, G., Walter, J. (2006). _Inborn metabolic diseases: diagnosis and treatment_. (pp 302-303) (4th ed). New York: Springer Publishing Company." SMP00137,"2-Methyl-3-Hydroxybutryl CoA Dehydrogenase Deficiency","# ""Uniprot: Q99714"":http://www.uniprot.org/uniprot/Q99714 # ""OMIM: Entry 300438"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300438 # ""Wikipedia: 2-Methylbutyryl-CoA dehydrogenase deficiency"":http://en.wikipedia.org/wiki/2-Methylbutyryl-CoA_dehydrogenase_deficiency" SMP00138,"3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency","# ""Wikipedia: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency"":http://en.wikipedia.org/wiki/3-hydroxy-3-methylglutaryl-CoA_lyase_deficiency # ""Uniprot: P35914"":http://www.uniprot.org/uniprot/P35914 # ""OMIM: Entry 246450"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450 # Barash V, Mandel H, Sella S, Geiger R: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: biochemical studies and family investigation of four generations. J Inherit Metab Dis. 1990;13(2):156-64. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2116546 # Faull KF, Bolton PD, Halpern B, Hammond J, Danks DM: The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria. Clin Chim Acta. 1976 Dec;73(3):553-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1000872 # Muroi J, Yorifuji T, Uematsu A, Shigematsu Y, Onigata K, Maruyama H, Nobutoki T, Kitamura A, Nakahata T: Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. Hum Genet. 2000 Oct;107(4):320-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11129331 # Mitchell GA, Robert MF, Hruz PW, Wang S, Fontaine G, Behnke CE, Mende-Mueller LM, Schappert K, Lee C, Gibson KM, Miziorko HM, et al.: 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency. J Biol Chem. 1993 Feb 25;268(6):4376-81. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8440722" SMP00139,"3-Methylglutaconic Aciduria Type I","# ""OMIM: Entry 250950"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250950 # ""Uniprot: Q13825"":http://www.uniprot.org/uniprot/Q13825 # ""Wikipedia: 3-Methylglutaconic aciduria type 1"":http://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria_type_1 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 71) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Duran M, Beemer FA, Tibosch AS, Bruinvis L, Ketting D, Wadman SK: Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism. J Pediatr. 1982 Oct;101(4):551-4. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6181239 # Gibson KM, Sherwood WG, Hoffman GF, Stumpf DA, Dianzani I, Schutgens RB, Barth PG, Weismann U, Bachmann C, Schrynemackers-Pitance P, et al.: Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. J Pediatr. 1991 Jun;118(6):885-90. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1710267 # IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ: 3-Methylglutaconic aciduria type I is caused by mutations in AUH. Am J Hum Genet. 2002 Dec;71(6):1463-6. Epub 2002 Nov 14. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12434311 # Shoji Y, Takahashi T, Sawaishi Y, Ishida A, Matsumori M, Shoji Y, Enoki M, Watanabe H, Takada G: 3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease. J Inherit Metab Dis. 1999 Feb;22(1):1-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10070612" SMP00140,"3-Methylglutaconic Aciduria Type III","# ""Uniprot: Q9H6K4"":http://www.uniprot.org/uniprot/Q9H6K4 # ""OMIM: Entry 258501"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258501 # ""Wikipedia: 3-Methylglutaconic aciduria type 3"":http://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria_type_3 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 72) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Costeff H, Gadoth N, Apter N, Prialnic M, Savir H: A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology. 1989 Apr;39(4):595-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2494568 # Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O: Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001 Dec;69(6):1218-24. Epub 2001 Oct 19. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11668429 # Chitayat D, Chemke J, Gibson KM, Mamer OA, Kronick JB, McGill JJ, Rosenblatt B, Sweetman L, Scriver CR: 3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4'). J Inherit Metab Dis. 1992;15(2):204-12. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1382150" SMP00141,"3-Methylglutaconic Aciduria Type IV","# ""Wikipedia: 3-Methylglutaconic aciduria type 4"":http://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria_type_4 # ""OMIM: Entry 250951"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250951 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 72) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Chitayat D, Chemke J, Gibson KM, Mamer OA, Kronick JB, McGill JJ, Rosenblatt B, Sweetman L, Scriver CR: 3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4'). J Inherit Metab Dis. 1992;15(2):204-12. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1382150" SMP00143,5-Oxoprolinuria,"# ""Wikipedia: 5-oxoprolinuria"":http://en.wikipedia.org/wiki/5-oxoprolinuria # ""Uniprot: P48637"":http://www.uniprot.org/uniprot/P48637 # ""OMIM: Entry 266130"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266130 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 81) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Divry P, Roulaud-Parrot F, Dorche C, Zabot MT, Contraire B, Hagenfeldt L, Larsson A: 5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome. J Inherit Metab Dis. 1991;14(3):341-4. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1770788 # Njalsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S: Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. Hum Genet. 2005 Apr;116(5):384-9. Epub 2005 Feb 17. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15717202 # Spielberg SP, Kramer LI, Goodman SI, Butler J, Tietze F, Quinn P, Schulman JD: 5-oxoprolinuria: biochemical observations and case report. J Pediatr. 1977 Aug;91(2):237-41. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/874680" SMP00144,"Adenosine Deaminase Deficiency","# ""Uniprot: P00813"":http://www.uniprot.org/uniprot/P00813 # ""OMIM: Entry 102700"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102700 # ""Wikipedia: Adenosine deaminase deficiency"":http://en.wikipedia.org/wiki/Adenosine_deaminase_deficiency # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 24) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Shovlin CL, Hughes JM, Simmonds HA, Fairbanks L, Deacock S, Lechler R, Roberts I, Webster AD: Adult presentation of adenosine deaminase deficiency. Lancet. 1993 Jun 5;341(8858):1471. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8099155 # Rogers MH, Lwin R, Fairbanks L, Gerritsen B, Gaspar HB: Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency. J Pediatr. 2001 Jul;139(1):44-50. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11445793 # Ratech H, Greco MA, Gallo G, Rimoin DL, Kamino H, Hirschhorn R: Pathologic findings in adenosine deaminase-deficient severe combined immunodeficiency. I. Kidney, adrenal, and chondro-osseous tissue alterations. Am J Pathol. 1985 Jul;120(1):157-69. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/4014441" SMP00145,"Benazepril Pathway","# Lotensin. (2009). [Electronic version]. e-CPS. Retrieved August 22, 2009. # Peters, J. (2004). ACE inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 2-5). Berlin, Germany: Springer. # Stanfield, C.L., & Germann, W.J. (2008). _Principles of human physiology_ (3 ^rd^ ed.). San Francisco, CA: Pearson Education, Inc. # Bader, M. (2004). Renin-angiotensin-aldosterone system. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 810-814). Berlin, Germany: Springer." SMP00146,"Captopril Pathway","# Bader, M. (2004). Renin-angiotensin-aldosterone system. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 810-814). Berlin, Germany: Springer. # Capoten. (2009). [Electronic version]. e-CPS. Retrieved August 22, 2009. # Peters, J. (2004). ACE inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 2-5). Berlin, Germany: Springer. # Stanfield, C.L., & Germann, W.J. (2008). _Principles of human physiology_ (3 ^rd^ ed.). San Francisco, CA: Pearson Education, Inc." SMP00147,"Cilazapril Pathway","# Bader, M. (2004). Renin-angiotensin-aldosterone system. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 810-814). Berlin, Germany: Springer. # Inhibace. (2009). [Electronic version]. e-CPS. Retrieved August 22, 2009. # Peters, J. (2004). ACE inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 2-5). Berlin, Germany: Springer. # Stanfield, C.L., & Germann, W.J. (2008). _Principles of human physiology_ (3 ^rd^ ed.). San Francisco, CA: Pearson Education, Inc." SMP00148,"Enalapril Pathway","# Bader, M. (2004). Renin-angiotensin-aldosterone system. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 810-814). Berlin, Germany: Springer. # Peters, J. (2004). ACE inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 2-5). Berlin, Germany: Springer. # Stanfield, C.L., & Germann, W.J. (2008). _Principles of human physiology_ (3 ^rd^ ed.). San Francisco, CA: Pearson Education, Inc. # Vasotec. (2009). [Electronic version]. e-CPS. Retrieved August 22, 2009." SMP00149,"Fosinopril Pathway","# Bader, M. (2004). Renin-angiotensin-aldosterone system. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 810-814). Berlin, Germany: Springer. # Monopril. (2009). [Electronic version]. e-CPS. Retrieved August 22, 2009. # Peters, J. (2004). ACE inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 2-5). Berlin, Germany: Springer. # Stanfield, C.L., & Germann, W.J. (2008). _Principles of human physiology_ (3 ^rd^ ed.). San Francisco, CA: Pearson Education, Inc." SMP00150,"Lisinopril Pathway","# Bader, M. (2004). Renin-angiotensin-aldosterone system. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 810-814). Berlin, Germany: Springer. # Peters, J. (2004). ACE inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 2-5). Berlin, Germany: Springer. # Prinivil. (2009). [Electronic version]. e-CPS. Retrieved August 22, 2009. # Stanfield, C.L., & Germann, W.J. (2008). _Principles of human physiology_ (3 ^rd^ ed.). San Francisco, CA: Pearson Education, Inc." SMP00151,"Moexipril Pathway","# Bader, M. (2004). Renin-angiotensin-aldosterone system. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 810-814). Berlin, Germany: Springer. # Peters, J. (2004). ACE inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 2-5). Berlin, Germany: Springer. # Stanfield, C.L., & Germann, W.J. (2008). _Principles of human physiology_ (3 ^rd^ ed.). San Francisco, CA: Pearson Education, Inc." SMP00152,"Perindopril Pathway","# Bader, M. (2004). Renin-angiotensin-aldosterone system. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 810-814). Berlin, Germany: Springer. # Coversyl. (2009). [Electronic version]. e-CPS. Retrieved August 22, 2009. # Peters, J. (2004). ACE inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 2-5). Berlin, Germany: Springer. # Stanfield, C.L., & Germann, W.J. (2008). _Principles of human physiology_ (3 ^rd^ ed.). San Francisco, CA: Pearson Education, Inc." SMP00153,"Quinapril Pathway","# Accupril. (2009). [Electronic version]. e-CPS. Retrieved August 22, 2009. # Bader, M. (2004). Renin-angiotensin-aldosterone system. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 810-814). Berlin, Germany: Springer. # Peters, J. (2004). ACE inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 2-5). Berlin, Germany: Springer. # Stanfield, C.L., & Germann, W.J. (2008). _Principles of human physiology_ (3 ^rd^ ed.). San Francisco, CA: Pearson Education, Inc." SMP00154,"Ramipril Pathway","# Altace. (2009). [Electronic version]. e-CPS. Retrieved August 22, 2009. # Bader, M. (2004). Renin-angiotensin-aldosterone system. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 810-814). Berlin, Germany: Springer. # Peters, J. (2004). ACE inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 2-5). Berlin, Germany: Springer. # Stanfield, C.L., & Germann, W.J. (2008). _Principles of human physiology_ (3 ^rd^ ed.). San Francisco, CA: Pearson Education, Inc." SMP00155,"Rescinnamine Pathway","# Bader, M. (2004). Renin-angiotensin-aldosterone system. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 810-814). Berlin, Germany: Springer. # Peters, J. (2004). ACE inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 2-5). Berlin, Germany: Springer. # Stanfield, C.L., & Germann, W.J. (2008). _Principles of human physiology_ (3 ^rd^ ed.). San Francisco, CA: Pearson Education, Inc." SMP00156,"Spirapril Pathway","# Bader, M. (2004). Renin-angiotensin-aldosterone system. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 810-814). Berlin, Germany: Springer. # Peters, J. (2004). ACE inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 2-5). Berlin, Germany: Springer. # Stanfield, C.L., & Germann, W.J. (2008). _Principles of human physiology_ (3 ^rd^ ed.). San Francisco, CA: Pearson Education, Inc." SMP00157,"Trandolapril Pathway","# Bader, M. (2004). Renin-angiotensin-aldosterone system. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 810-814). Berlin, Germany: Springer. # Peters, J. (2004). ACE inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 2-5). Berlin, Germany: Springer. # Stanfield, C.L., & Germann, W.J. (2008). _Principles of human physiology_ (3 ^rd^ ed.). San Francisco, CA: Pearson Education, Inc." SMP00167,"Adenylosuccinate Lyase Deficiency","# Engelke, U.F.H., S.H. Moolenaar, S.M.G.C. Hoenderop, E. Morava, M. van der Graaf, A. Heerschap and R.A. Wevers. 2007. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy. SPS Publications,The Netherlands. # ""Uniprot: P30566"":http://www.uniprot.org/uniprot/P30566 # ""OMIM: Entry 103050"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103050 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 25) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Edery P, Chabrier S, Ceballos-Picot I, Marie S, Vincent MF, Tardieu M: Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. Am J Med Genet A. 2003 Jul 15;120A(2):185-90. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12833398 # Jaeken J, Van den Bergh F, Vincent MF, Casaer P, Van den Berghe G: Adenylosuccinase deficiency: a newly recognized variant. J Inherit Metab Dis. 1992;15(3):416-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1405483 # Jaeken J, Wadman SK, Duran M, van Sprang FJ, Beemer FA, Holl RA, Theunissen PM, de Cock P, van den Bergh F, Vincent MF, et al.: Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur J Pediatr. 1988 Nov;148(2):126-31. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3234432 # Marie S, Cuppens H, Heuterspreute M, Jaspers M, Tola EZ, Gu XX, Legius E, Vincent MF, Jaeken J, Cassiman JJ, Van den Berghe G: Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. Hum Mutat. 1999;13(3):197-202. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10090474 # Marie S, Heron B, Bitoun P, Timmerman T, Van Den Berghe G, Vincent MF: AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Am J Hum Genet. 2004 Jun;74(6):1276-81. Epub 2004 Apr 26. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15114530" SMP00168,AICA-Ribosiduria,"# Engelke, U.F.H., S.H. Moolenaar, S.M.G.C. Hoenderop, E. Morava, M. van der Graaf, A. Heerschap and R.A. Wevers. 2007. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy. SPS Publications,The Netherlands. # ""Uniprot: P31939"":http://www.uniprot.org/uniprot/P31939 # ""OMIM: Entry 608688"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608688 # Greasley SE, Horton P, Ramcharan J, Beardsley GP, Benkovic SJ, Wilson IA: Crystal structure of a bifunctional transformylase and cyclohydrolase enzyme in purine biosynthesis. Nat Struct Biol. 2001 May;8(5):402-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11323713 # Marie S, Heron B, Bitoun P, Timmerman T, Van Den Berghe G, Vincent MF: AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Am J Hum Genet. 2004 Jun;74(6):1276-81. Epub 2004 Apr 26. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15114530" SMP00169,Alkaptonuria,"# Engelke, U.F.H., S.H. Moolenaar, S.M.G.C. Hoenderop, E. Morava, M. van der Graaf, A. Heerschap and R.A. Wevers. 2007. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy. SPS Publications,The Netherlands. # ""Uniprot: Q93099"":http://www.uniprot.org/uniprot/Q93099 # ""OMIM: Entry 203500"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203500 # ""Wikipedia: Alkaptonuria"":http://en.wikipedia.org/wiki/Alkaptonuria # Alcaptonuria.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S. _The Metabolic Basis of Inherited Disease_. New York: McGraw-Hill (pp. 268-282) (4th ed.) 1978. # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 27) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Beltran-Valero de Bernabe D, Granadino B, Chiarelli I, Porfirio B, Mayatepek E, Aquaron R, Moore MM, Festen JJ, Sanmarti R, Penalva MA, de Cordoba SR: Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. Am J Hum Genet. 1998 Apr;62(4):776-84. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9529363 # Elcioglu NH, Aytug AF, Muller CR, Gurbuz O, Ergun T, Kotiloglu E, Elcioglu M: Alkaptonuria caused by compound heterozygote mutations. Genet Couns. 2003;14(2):207-13. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12872815 # Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, Renedo M, Fernandez-Ruiz E, Penalva MA, Rodriguez de Cordoba S: The molecular basis of alkaptonuria. Nat Genet. 1996 Sep;14(1):19-24. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8782815 # Gehrig A, Schmidt SR, Muller CR, Srsen S, Srsnova K, Kress W: Molecular defects in alkaptonuria. Cytogenet Cell Genet. 1997;76(1-2):14-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9154114 # Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA: Natural history of alkaptonuria. N Engl J Med. 2002 Dec 26;347(26):2111-21. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12501223" SMP00170,"Aromatic L-Aminoacid Decarboxylase Deficiency ","# Engelke, U.F.H., S.H. Moolenaar, S.M.G.C. Hoenderop, E. Morava, M. van der Graaf, A. Heerschap and R.A. Wevers. 2007. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy. SPS Publications,The Netherlands. # ""Uniprot: P20711"":http://www.uniprot.org/uniprot/P20711 # ""OMIM: Entry 608643"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608643 # Verbeek MM, Geurtz PB, Willemsen MA, Wevers RA: Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes. Mol Genet Metab. 2007 Apr;90(4):363-9. Epub 2007 Jan 19. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/17240182 # Swoboda KJ, Saul JP, McKenna CE, Speller NB, Hyland K: Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. Ann Neurol. 2003;54 Suppl 6:S49-55. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12891654 # Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC: Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology. 2004 Apr 13;62(7):1058-65. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15079002" SMP00171,Aspartylglucosaminuria,"# Engelke, U.F.H., S.H. Moolenaar, S.M.G.C. Hoenderop, E. Morava, M. van der Graaf, A. Heerschap and R.A. Wevers. 2007. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy. SPS Publications,The Netherlands. # ""Uniprot: P20933"":http://www.uniprot.org/uniprot/P20933 # ""OMIM: Entry 208400"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208400 # Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K. _Population Structure and Genetic Disorders_. (pp 577-582) New York: Academic Press 1980. # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 31) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Gehler J, Sewell AC, Becker C, Hartmann J, Spranger J: Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family. Helv Paediatr Acta. 1981;36(2):179-89. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6788730 # Gehler J, Sewell AC, Becker C, Spranger J, Hartmann J: Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics. J Inherit Metab Dis. 1981;4(4):229-30. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6796777 # Gonzalez-Gomez I, Mononen I, Heisterkamp N, Groffen J, Kaartinen V: Progressive neurodegeneration in aspartylglycosaminuria mice. Am J Pathol. 1998 Oct;153(4):1293-300. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9777961 # Ikonen E, Baumann M, Gron K, Syvanen AC, Enomaa N, Halila R, Aula P, Peltonen L: Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. EMBO J. 1991 Jan;10(1):51-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1703489 # Ikonen E, Peltonen L: Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease. Hum Mutat. 1992;1(5):361-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1301945 # Saarela J, Laine M, Oinonen C, Schantz C, Jalanko A, Rouvinen J, Peltonen L: Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. Hum Mol Genet. 2001 Apr 15;10(9):983-95. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11309371" SMP00172,"Beta Ureidopropionase Deficiency","# ""Uniprot: A3KMF8"":http://www.uniprot.org/uniprot/A3KMF8 # ""Wikipedia: UPB1"":http://en.wikipedia.org/wiki/UPB1 # ""OMIM: Entry 606673"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673 # Van Kuilenburg, A., Van Lenthe, H., Ratmann, G., Assmann, B., Hoffmann, G., Brautigam, C., Van Gennip, A. _Purine and Pyrimidine Metabolism in Man_ (pp. 243-246) X Kluwer Academic/Plenum 2000. # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 103) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # van Kuilenburg AB, Meinsma R, Assman B, Hoffman GF, Voit T, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, Wevers RA, Rutsch F, van Gennip AH: Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency. Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1093-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/17065070 # van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH: beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet. 2004 Nov 15;13(22):2793-801. Epub 2004 Sep 22. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15385443" SMP00173,"Beta-Ketothiolase Deficiency","# ""Wikipedia: Beta-ketothiolase deficiency"":http://en.wikipedia.org/wiki/Beta-ketothiolase_deficiency # ""OMIM: Entry 203750"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203750 # ""Uniprot: P24752"":http://www.uniprot.org/uniprot/P24752 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 62) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Bennett MJ, Littlewood JM, MacDonald A, Pollitt RJ, Thompson J: A case of beta-ketothiolase deficiency. J Inherit Metab Dis. 1983;6(4):157. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6422156 # Sewell AC, Herwig J, Wiegratz I, Lehnert W, Niederhoff H, Song XQ, Kondo N, Fukao T: Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy. J Inherit Metab Dis. 1998 Jun;21(4):441-2. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9700610 # Fukao T, Yamaguchi S, Tomatsu S, Orii T, Frauendienst-Egger G, Schrod L, Osumi T, Hashimoto T: Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. Biochem Biophys Res Commun. 1991 Aug 30;179(1):124-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1715688" SMP00174,"Biotinidase Deficiency","# ""Uniprot: P43251"":http://www.uniprot.org/uniprot/P43251 # ""OMIM: Entry 253260"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253260 # ""Wikipedia: Biotinidase deficiency"":http://en.wikipedia.org/wiki/Biotinidase_deficiency # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 32) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Baumgartner ER, Suormala T, Wick H, Bausch J, Bonjour JP: Biotinidase deficiency: factors responsible for the increased biotin requirement. J Inherit Metab Dis. 1985;8 Suppl 1:59-64. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3930842 # Hart PS, Hymes J, Wolf B: Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency. Am J Hum Genet. 1992 Jan;50(1):126-36. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1729884 # Hymes J, Stanley CM, Wolf B: Mutations in BTD causing biotinidase deficiency. Hum Mutat. 2001 Nov;18(5):375-81. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11668630 # Pomponio RJ, Hymes J, Reynolds TR, Meyers GA, Fleischhauer K, Buck GA, Wolf B: Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. Pediatr Res. 1997 Dec;42(6):840-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9396567" SMP00175,"Canavan Disease","# ""Uniprot: P45381"":http://www.uniprot.org/uniprot/P45381 # ""OMIM: Entry 271900"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271900 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 33, 114) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Matalon R, Kaul R, Casanova J, Michals K, Johnson A, Rapin I, Gashkoff P, Deanching M: SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease. J Inherit Metab Dis. 1989;12 Suppl 2:329-31. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2512436 # Shaag A, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.: The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients. Am J Hum Genet. 1995 Sep;57(3):572-80. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7668285 # Velinov M, Zellers N, Styles J, Wisniewski K: Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease. Clin Genet. 2008 Mar;73(3):288-9. Epub 2007 Dec 6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/18070137 # Kaul R, Gao GP, Aloya M, Balamurugan K, Petrosky A, Michals K, Matalon R: Canavan disease: mutations among Jewish and non-Jewish patients. Am J Hum Genet. 1994 Jul;55(1):34-41. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8023850" SMP00177,"Cystathionine Beta-Synthase Deficiency","# ""Uniprot: P35520"":http://www.uniprot.org/uniprot/P35520 # ""OMIM: Entry 236200"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236200 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 37) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Kaeser AC, Rodnight R, Ellis BA: Psychiatric and biochemical aspects of a case of homocystinuria. J Neurol Neurosurg Psychiatry. 1969 Apr;32(2):88-93. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/5783298 # Gallagher PM, Naughten E, Hanson NQ, Schwichtenberg K, Bignell M, Yuan M, Ward P, Yap S, Whitehead AS, Tsai MY: Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria. Mol Genet Metab. 1998 Dec;65(4):298-302. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9889017 # Gaustadnes M, Wilcken B, Oliveriusova J, McGill J, Fletcher J, Kraus JP, Wilcken DE: The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. Hum Mutat. 2002 Aug;20(2):117-26. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12124992 # Kluijtmans LA, Boers GH, Kraus JP, van den Heuvel LP, Cruysberg JR, Trijbels FJ, Blom HJ: The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. Am J Hum Genet. 1999 Jul;65(1):59-67. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10364517 # Komrower GM: Dietary treatment of homocystinuria. Am J Dis Child. 1967 Jan;113(1):98-100. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6015916 # Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M: Cystathionine beta-synthase mutations in homocystinuria. Hum Mutat. 1999;13(5):362-75. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10338090" SMP00178,"Dihydropyrimidinase Deficiency","# ""Uniprot: Q14117"":http://www.uniprot.org/uniprot/Q14117 # ""OMIM: Entry 222748"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222748 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 38) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Duran M, Rovers P, de Bree PK, Schreuder CH, Beukenhorst H, Dorland L, Berger R: Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism. J Inherit Metab Dis. 1991;14(3):367-70. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1770794 # Hamajima N, Kouwaki M, Vreken P, Matsuda K, Sumi S, Imaeda M, Ohba S, Kidouchi K, Nonaka M, Sasaki M, Tamaki N, Endo Y, De Abreu R, Rotteveel J, van Kuilenburg A, van Gennip A, Togari H, Wada Y: Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. Am J Hum Genet. 1998 Sep;63(3):717-26. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9718352 # van Gennip AH, de Abreu RA, van Lenthe H, Bakkeren J, Rotteveel J, Vreken P, van Kuilenburg AB: Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria. J Inherit Metab Dis. 1997 Jul;20(3):339-42. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9266350" SMP00179,"Dihydropyrimidine Dehydrogenase Deficiency (DHPD)","# ""Wikipedia: Dihydropyrimidine dehydrogenase deficiency"":http://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency # ""Uniprot: Q12882"":http://www.uniprot.org/uniprot/Q12882 # ""OMIM: Entry 274270"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274270 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 39) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Berger R, Stoker-de Vries SA, Wadman SK, Duran M, Beemer FA, de Bree PK, Weits-Binnerts JJ, Penders TJ, van der Woude JK: Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. Clin Chim Acta. 1984 Aug 31;141(2-3):227-34. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6488556 # Van Kuilenburg AB, Vreken P, Abeling NG, Bakker HD, Meinsma R, Van Lenthe H, De Abreu RA, Smeitink JA, Kayserili H, Apak MY, Christensen E, Holopainen I, Pulkki K, Riva D, Botteon G, Holme E, Tulinius M, Kleijer WJ, Beemer FA, Duran M, Niezen-Koning KE, Smit GP, Jakobs C, Smit LM, Van Gennip AH, et al.: Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet. 1999 Jan;104(1):1-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10071185 # Brockstedt M, Jakobs C, Smit LM, van Gennip AH, Berger R: A new case of dihydropyrimidine dehydrogenase deficiency. J Inherit Metab Dis. 1990;13(1):121-4. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2109146" SMP00181,"Ethylmalonic Encephalopathy","# ""Wikipedia: Ethylmalonic encephalopathy"":http://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy # ""Uniprot: O95571"":http://www.uniprot.org/uniprot/O95571 # ""OMIM: Entry 602473"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602473 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 41) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Burlina A, Zacchello F, Dionisi-Vici C, Bertini E, Sabetta G, Bennet MJ, Hale DE, Schmidt-Sommerfeld E, Rinaldo P: New clinical phenotype of branched-chain acyl-CoA oxidation defect. Lancet. 1991 Dec 14;338(8781):1522-3. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1683940 # Grosso S, Mostardini R, Farnetani MA, Molinelli M, Berardi R, Dionisi-Vici C, Rizzo C, Morgese G, Balestri P: Ethylmalonic encephalopathy: further clinical and neuroradiological characterization. J Neurol. 2002 Oct;249(10):1446-50. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12382164 # Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Dobeln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G, Tiranti V: Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. J Med Genet. 2008 Jul;45(7):473-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/18593870 # Ozand PT, Rashed M, Millington DS, Sakati N, Hazzaa S, Rahbeeni Z, al Odaib A, Youssef N, Mazrou A, Gascon GG, et al.: Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. Brain Dev. 1994 Nov;16 Suppl:12-22. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7726376 # Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M: Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet. 2004 Feb;74(2):239-52. Epub 2004 Jan 19. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/14732903" SMP00182,Galactosemia,"# ""Uniprot: P07902"":http://www.uniprot.org/uniprot/P07902 # ""OMIM: Entry 230400"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230400 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 44) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # DAWSON SP, HICKMAN RO, KELLEY VC: Galactosemia. A genetic study of four generations by enzyme assay. Am J Dis Child. 1960 Jul;100:69-73. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/13814586 # Ashino J, Okano Y, Suyama I, Yamazaki T, Yoshino M, Furuyama J, Lin HC, Reichardt JK, Isshiki G: Molecular characterization of galactosemia (type 1) mutations in Japanese. Hum Mutat. 1995;6(1):36-43. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7550229 # Elsas LJ, Langley S, Steele E, Evinger J, Fridovich-Keil JL, Brown A, Singh R, Fernhoff P, Hjelm LN, Dembure PP: Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. Am J Hum Genet. 1995 Mar;56(3):630-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7887416 # Elsas LJ 2nd, Lai K: The molecular biology of galactosemia. Genet Med. 1998 Nov-Dec;1(1):40-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11261429" SMP00183,"Gamma-Glutamyltransferase Deficiency","# ""OMIM: Entry 231950"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231950 # ""Uniprot: P19440"":http://www.uniprot.org/uniprot/P19440 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 46) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Hammond JW, Potter M, Wilcken B, Truscott R: Siblings with gamma-glutamyltransferase deficiency. J Inherit Metab Dis. 1995;18(1):82-3. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7623451" SMP00184,"Renal Glucosuria","# ""OMIM: Entry 233100"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=233100 # ""Metagene: id_d=173"":http://www.metagene.de/program/d.prg?id_d=173" SMP00185,"Glutaric Aciduria Type I","# ""Wikipedia: Glutaric aciduria type 1"":http://en.wikipedia.org/wiki/Glutaric_aciduria_type_1 # ""Uniprot: Q92947"":http://www.uniprot.org/uniprot/Q92947 # ""OMIM: Entry 231670"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231670 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 47) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Amir N, el-Peleg O, Shalev RS, Christensen E: Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features. Neurology. 1987 Oct;37(10):1654-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3658174 # Biery BJ, Stein DE, Morton DH, Goodman SI: Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet. 1996 Nov;59(5):1006-11. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8900227 # Hedlund GL, Longo N, Pasquali M: Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):86-94. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/16602100 # Zschocke J, Quak E, Guldberg P, Hoffmann GF: Mutation analysis in glutaric aciduria type I. J Med Genet. 2000 Mar;37(3):177-81. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10699052 # ""Uniprot: Q9HAC7"":http://www.uniprot.org/uniprot/Q9HAC7 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 49) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Knerr I, Zschocke J, Trautmann U, Dorland L, de Koning TJ, Muller P, Christensen E, Trefz FK, Wundisch GF, Rascher W, Hoffmann GF: Glutaric aciduria type III: a distinctive non-disease? J Inherit Metab Dis. 2002 Oct;25(6):483-90. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12555941 # Sherman EA, Strauss KA, Tortorelli S, Bennett MJ, Knerr I, Morton DH, Puffenberger EG: Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. Am J Hum Genet. 2008 Nov;83(5):604-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/18926513" SMP00186,"Glutaric Aciduria Type III","# Knerr I, Zschocke J, Trautmann U, Dorland L, de Koning TJ, Müller P, Christensen E, Trefz FK, Wündisch GF, Rascher W, Hoffmann GF. _Glutaric aciduria type III: a distinctive non-disease?_ J Inherit Metab Dis. 2002 Oct; 25(6):483-90. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12555941 # Benz, E., Cox, T., Firth, J., Warrel, D. _Oxford Textbook of Medicine_ (pp. 131) Vol. II. (4th ed.) Oxford University Press: Oxford." SMP00187,"Glycerol Kinase Deficiency","# ""Uniprot: P32189"":http://www.uniprot.org/uniprot/P32189 # ""OMIM: Entry 307030"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=307030 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 50) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Balducci R, Municchi G, Toscano V, Mangiantini A, Sabatini R, Caiola S, Tedeschi B, Orlandi L, Boscherini B: Complex glycerol kinase deficiency: an unusual cause of salt-wasting in males. Clin Endocrinol (Oxf). 1995 Apr;42(4):437-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7750200 # Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT: Isolated and contiguous glycerol kinase gene disorders: a review. J Inherit Metab Dis. 2000 Sep;23(6):529-47. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11032329 # Walker AP, Muscatelli F, Stafford AN, Chelly J, Dahl N, Blomquist HK, Delanghe J, Willems PJ, Steinmann B, Monaco AP: Mutations and phenotype in isolated glycerol kinase deficiency. Am J Hum Genet. 1996 Jun;58(6):1205-11. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8651297" SMP00188,"Guanidinoacetate Methyltransferase Deficiency (GAMT Deficiency)","# ""OMIM: Entry 612736"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612736 # ""Uniprot: Q14353"":http://www.uniprot.org/uniprot/Q14353 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 53) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Caldeira Araujo H, Smit W, Verhoeven NM, Salomons GS, Silva S, Vasconcelos R, Tomas H, Tavares de Almeida I, Jakobs C, Duran M: Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Am J Med Genet A. 2005 Mar 1;133A(2):122-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15651030 # Stockler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K: Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet. 1996 May;58(5):914-22. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8651275 # Schulze A: Creatine deficiency syndromes. Mol Cell Biochem. 2003 Feb;244(1-2):143-50. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12701824" SMP00189,"Hartnup Disorder","# Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 54) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Kraut JA, Sachs G: Hartnup disorder: unraveling the mystery. Trends Pharmacol Sci. 2005 Feb;26(2):53-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15681018" SMP00190,Hawkinsinuria,"# ""Uniprot: P32754"":http://www.uniprot.org/uniprot/P32754 # ""OMIM: Entry 140350"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=140350 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 55) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Borden M, Holm J, Leslie J, Sweetman L, Nyhan WL, Fleisher L, Nadler H, Lewis D, Scott CR: Hawkinsinuria in two families. Am J Med Genet. 1992 Sep 1;44(1):52-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1519651 # Tomoeda K, Awata H, Matsuura T, Matsuda I, Ploechl E, Milovac T, Boneh A, Scott CR, Danks DM, Endo F: Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. Mol Genet Metab. 2000 Nov;71(3):506-10. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11073718 # Wilcken B, Hammond JW, Howard N, Bohane T, Hocart C, Halpern B: Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy. N Engl J Med. 1981 Oct 8;305(15):865-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7278885" SMP00191,Histidinemia,"# ""Uniprot: P42357"":http://www.uniprot.org/uniprot/P42357 # ""OMIM: Entry 235800"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235800 # Stanbury, J., Wyngaarden, J., Fredrickson, D. (1978) _Metabolic Basis of Inherited Disease_. (pp. 317-327) (4th ed) New York: McGraw-Hill. # Scriver, C., Beaudet, A., Sly, W., Valle, D. (2001) _The Metabolic and Molecular Bases of Inherited Disease_. Vol. II. (pp. 1807-1820) (8th ed) New York: McGraw-Hill. # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 56) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # LA DU BN, HOWELL RR, JACOBY GA, SEEGMILLER JE, ZANNONI VG: The enzymatic defect in histidinemia. Biochem Biophys Res Commun. 1962 May 11;7:398-402. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/14461183 # LADU BN, HOWELL RR, JACOBY GA, SEEGMILLER JE, SOBER EK, ZANNONI VG, CANBY JP, ZIEGLER LK: CLINICAL AND BIOCHEMICAL STUDIES ON TWO CASES OF HISTIDINEMIA. Pediatrics. 1963 Aug;32:216-27. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/14044449 # Lam WK, Cleary MA, Wraith JE, Walter JH: Histidinaemia: a benign metabolic disorder. Arch Dis Child. 1996 Apr;74(4):343-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8669938" SMP00192,Hypoacetylaspartia,"# Wiame E, Tyteca D, Pierrot N, Collard F, Amyere M, Noël G, Desmedt J, Nassogne MC, Vikkula M, Octave JN, Vincent MF, Courtoy PJ, Boltshauser E, Van Schaftingen E. Molecular Identification of Aspartate N-acetyltransferase and its Mutation in Hypoacetylaspartia. Biochem J. 2009 Oct 6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/19807691 # Burlina AP, Schmitt B, Engelke U, Wevers RA, Burlina AB, Boltshauser E. Hypoacetylaspartia: clinical and biochemical follow-up of a patient. Adv Exp Med Biol. 2006;576:283-7; discussion 361-3. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/16802720" SMP00193,Iminoglycinuria,"# ""OMIM: Entry 242600"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242600 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 60) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Saito T, Hayasaka S, Yabata K, Omura K, Mizuno K, Tada K.: Atypical gyrate atrophy of the choroid and retina and iminoglycinuria. Tohoku J Exp Med. 1981 Nov;135(3):331-2. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7314117" SMP00196,"Leigh Syndrome","# ""Wikipedia: Leigh%27s disease"":http://en.wikipedia.org/wiki/Leigh%27s_disease # ""OMIM: Entry 256000"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256000 # ""Uniprot: P08559"":http://www.uniprot.org/uniprot/P08559 # ""Uniprot: P00846"":http://www.uniprot.org/uniprot/P00846 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 120) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Dahl HH: Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome. Am J Hum Genet. 1998 Dec;63(6):1594-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9837811 # David RB, Gomez MR, Okazaki H: Necrotizing encephalomyelopathy (Leigh). Dev Med Child Neurol. 1970 Aug;12(4):436-45. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/5457539 # DiMauro S, De Vivo DC: Genetic heterogeneity in Leigh syndrome. Ann Neurol. 1996 Jul;40(1):5-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8687192 # Kretzschmar HA, DeArmond SJ, Koch TK, Patel MS, Newth CJ, Schmidt KA, Packman S: Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease). Pediatrics. 1987 Mar;79(3):370-3. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3103091" SMP00197,"Lysinuric Protein Intolerance","# ""OMIM: Entry 222700"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222700 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 64) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Borsani, G., Bassi, M. T., Sperandeo, M. P., De Grandi, A., Buoninconti, A., Riboni, M., et al.: SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nature Genet. 1999 Mar;21: 297-301. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10080183 # Kato, T.; Mizutani, N.; Ban, M.: Renal transport of lysine and arginine in lysinuric protein intolerance. Europ. J. Pediat. 1982 Nov;139: 181-184. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6819142 # Lauteala, T., Mykkanen, J., Sperandeo, M. P., Gasparini, P., Savontaus, M.-L., Simell, O., et al.: Genetic homogeneity of lysinuric protein intolerance. Europ. J. Hum. Genet. 1998 Nov-Dec;6: 612-615. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9887380" SMP00198,"Malonic Aciduria","# ""Uniprot: O95822"":http://www.uniprot.org/uniprot/O95822 # ""OMIM: Entry 248360"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248360 # Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (2001). _The Metabolic and Molecular Basis of Inherited Disease_ (pp. 2155-2157) (8th ed.) Vol. 2 New York: McGraw-Hill. # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 65) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Brown GK, Scholem RD, Bankier A, Danks DM: Malonyl coenzyme A decarboxylase deficiency. J Inherit Metab Dis. 1984;7(1):21-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6145813 # FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J: The molecular basis of malonyl-CoA decarboxylase deficiency. Am J Hum Genet. 1999 Aug;65(2):318-26. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10417274 # Haan EA, Scholem RD, Croll HB, Brown GK: Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect. Eur J Pediatr. 1986 Apr;144(6):567-70. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3709568 # MacPhee GB, Logan RW, Mitchell JS, Howells DW, Tsotsis E, Thorburn DR: Malonyl coenzyme A decarboxylase deficiency. Arch Dis Child. 1993 Oct;69(4):433-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8259873" SMP00199,"Maple Syrup Urine Disease","# ""Uniprot: P12694"":http://www.uniprot.org/uniprot/P12694 # ""Uniprot: P21953"":http://www.uniprot.org/uniprot/P21953 # ""Uniprot: P09622"":http://www.uniprot.org/uniprot/P09622 # ""OMIM: Entry 248600"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248600 # Hommes, F., Van den Berg, C. (1973). _Inborn Errors of Metabolism_ (pp. 337). London: Academic Press. # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 68) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Chuang JL, Fisher CR, Cox RP, Chuang DT: Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex. Am J Hum Genet. 1994 Aug;55(2):297-304. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8037208 # Chuang JL, Wynn RM, Moss CC, Song JL, Li J, Awad N, Mandel H, Chuang DT: Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype. J Biol Chem. 2004 Apr 23;279(17):17792-800. Epub 2004 Jan 23. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/14742428 # Danner DJ, Armstrong N, Heffelfinger SC, Sewell ET, Priest JH, Elsas LJ: Absence of branched chain acyl-transferase as a cause of maple syrup urine disease. J Clin Invest. 1985 Mar;75(3):858-60. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3980729 # Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA: Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Am J Hum Genet. 2001 Oct;69(4):863-8. Epub 2001 Aug 16. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11509994 # Frezal J, Amedee-Manesme O, Mitchell G, Heuertz S, Rey F, Rey J, Saudubray JM: Maple syrup urine disease: two different forms within a single family. Hum Genet. 1985;71(1):89-91. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/4029957" SMP00200,"Methylmalonic Aciduria","# ""Uniprot: P22033"":http://www.uniprot.org/uniprot/P22033 # ""OMIM: Entry 251000"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251000 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 74) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Barness LA, Morrow G 3rd: Methylmalonic aciduria. A newly discovered inborn error. Ann Intern Med. 1968 Sep;69(3):633-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/5673182 # Ledley FD, Jansen R, Nham SU, Fenton WA, Rosenberg LE: Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia. Proc Natl Acad Sci U S A. 1990 Apr;87(8):3147-50. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1970180 # Ledley FD, Levy HL, Shih VE, Benjamin R, Mahoney MJ: Benign methylmalonic aciduria. N Engl J Med. 1984 Oct 18;311(16):1015-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6148691" SMP00201,"Methylmalonic Aciduria Due to Cobalamin-Related Disorders","# Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 75) (2nd ed). Heilbronn: SPS Verlagsgesellschaft" SMP00202,"MNGIE (Mitochondrial Neurogastrointestinal Encephalopathy)","# ""Uniprot: P19971"":http://www.uniprot.org/uniprot/P19971 # ""OMIM: Entry 603041"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603041 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 77) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Bardosi A, Creutzfeldt W, DiMauro S, Felgenhauer K, Friede RL, Goebel HH, Kohlschutter A, Mayer G, Rahlf G, Servidei S, et al.: Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol. 1987;74(3):248-58. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2823522 # Giordano C, Powell H, Leopizzi M, de Curtis M, Travaglini C, Sebastiani M, Gallo P, Taylor RW, d'Amati G: Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. Neurology. 2009 Mar 24;72(12):1103-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/19307547 # Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E, Hays AP, Lovelace RE, Butler I, Bertorini TE, et al.: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology. 1994 Apr;44(4):721-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8164833 # Nishino I, Spinazzola A, Hirano M: Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science. 1999 Jan 29;283(5402):689-92. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9924029 # Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn CD, Connolly AM, Verloes A, Guimaraes J, Maillard I, Hamano H, Donati MA, Semrad CE, Russell JA, Andreu AL, Hadjigeorgiou GM, Vu TH, Tadesse S, Nygaard TG, Nonaka I, Hirano I, Bonilla E, Rowland LP, DiMauro S, Hirano M: Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol. 2000 Jun;47(6):792-800. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10852545" SMP00203,"Molybdenium Cofactor Deficiency","# ""OMIM: Entry 252150"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252150 # ""Uniprot: Q9NZB8"":http://www.uniprot.org/uniprot/Q9NZB8 # ""Uniprot: O96007"":http://www.uniprot.org/uniprot/O96007 # Johnson, J., Wadman, S. (1995). _Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency_. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : _The Metabolic and Molecular Bases of Inherited Disease_. (pp. 2271-2283) New York: McGraw-Hill. # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 78) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Aukett A, Bennett MJ, Hosking GP: Molybdenum co-factor deficiency: an easily missed inborn error of metabolism. Dev Med Child Neurol. 1988 Aug;30(4):531-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3169394 # Endres W, Shin YS, Gunther R, Ibel H, Duran M, Wadman SK: Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency. Eur J Pediatr. 1988 Dec;148(3):246-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3215199 # Johnson JL, Wuebbens MM, Mandell R, Shih VE: Molybdenum cofactor biosynthesis in humans. Identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor. J Clin Invest. 1989 Mar;83(3):897-903. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2522104 # Reiss J: Genetics of molybdenum cofactor deficiency. Hum Genet. 2000 Feb;106(2):157-63. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10746556 # Reiss J, Christensen E, Dorche C: Molybdenum cofactor deficiency: first prenatal genetic analysis. Prenat Diagn. 1999 Apr;19(4):386-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10327149 # Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT: Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. Am J Hum Genet. 1999 Mar;64(3):706-11. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10053004" SMP00205,"Ornithine Transcarbamylase Deficiency (OTC Deficiency)","# ""Uniprot: P00480"":http://www.uniprot.org/uniprot/P00480 # ""OMIM: Entry 311250"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311250 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 80) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Anadiotis G, Ierardi-Curto L, Kaplan PB, Berry GT: Ornithine transcarbamylase deficiency and pancreatitis. J Pediatr. 2001 Jan;138(1):123-4. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11148526 # Batshaw ML, Roan Y, Jung AL, Rosenberg LA, Brusilow SW: Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency. N Engl J Med. 1980 Feb 28;302(9):482-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7351973 # Finkelstein JE, Hauser ER, Leonard CO, Brusilow SW: Late-onset ornithine transcarbamylase deficiency in male patients. J Pediatr. 1990 Dec;117(6):897-902. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2246687 # Gilchrist JM, Coleman RA: Ornithine transcarbamylase deficiency: adult onset of severe symptoms. Ann Intern Med. 1987 Apr;106(4):556-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3826955 # Harding BN, Leonard JV, Erdohazi M: Ornithine carbamoyl transferase deficiency: a neuropathological study. Eur J Pediatr. 1984 Feb;141(4):215-20. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6734670 # Tuchman M, Plante RJ, Garcia-Perez MA, Rubio V: Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families. Hum Genet. 1996 Mar;97(3):274-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8786061" SMP00206,Phenylketonuria,"# ""Uniprot: P00439"":http://www.uniprot.org/uniprot/P00439 # ""OMIM: Entry 261600"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261600 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 83) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Burgard P, Rupp A, Konecki DS, Trefz FK, Schmidt H, Lichter-Konecki U: Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria. Eur J Pediatr. 1996 Jul;155 Suppl 1:S11-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8828601 # Eisensmith RC, Woo SL: Gene therapy for phenylketonuria. Eur J Pediatr. 1996 Jul;155 Suppl 1:S16-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8828602 # Hanley WB, Lee AW, Hanley AJ, Lehotay DC, Austin VJ, Schoonheyt WE, Platt BA, Clarke JT: ""Hypotyrosinemia"" in phenylketonuria. Mol Genet Metab. 2000 Apr;69(4):286-94. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10870846 # Kalaydjieva L, Dworniczak B, Kucinskas V, Yurgeliavicius V, Kunert E, Horst J: Geographical distribution gradients of the major PKU mutations and the linked haplotypes. Hum Genet. 1991 Feb;86(4):411-3. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1671852" SMP00207,"Prolidase Deficiency(PD)","# ""Uniprot: P12955"":http://www.uniprot.org/uniprot/P12955 # ""OMIM: Entry 170100"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170100 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 85) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Boright AP, Scriver CR, Lancaster GA, Choy F: Prolidase deficiency: biochemical classification of alleles. Am J Hum Genet. 1989 May;44(5):731-40. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2705457 # Endo F, Tanoue A, Kitano A, Arata J, Danks DM, Lapiere CM, Sei Y, Wadman SK, Matsuda I: Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes. J Clin Invest. 1990 Jan;85(1):162-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1688567 # Wysocki SJ, Hahnel R, Mahoney T, Wilson RG, Panegyres PK: Prolidase deficiency: a patient without hydroxyproline-containing iminodipeptides in urine. J Inherit Metab Dis. 1988;11(2):161-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3139928" SMP00208,"Prolinemia Type II","# ""Uniprot: P30038"":http://www.uniprot.org/uniprot/P30038 # ""Wikipedia: Hyperprolinemia"":http://en.wikipedia.org/wiki/Hyperprolinemia # ""OMIM: Entry 239510"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=239510 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 86) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Emery FA, Goldie L, Stern J: Hyperprolinaemia type 2. J Ment Defic Res. 1968 Sep;12(3):187-95. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/4972625 # Geraghty MT, Vaughn D, Nicholson AJ, Lin WW, Jimenez-Sanchez G, Obie C, Flynn MP, Valle D, Hu CA: Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. Hum Mol Genet. 1998 Sep;7(9):1411-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9700195 # Selkoe DJ: Familial hyperprolinemia and mental retardation. A second metabolic type. Neurology. 1969 May;19(5):494-502. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/5815222 # Valle DL, Phang JM, Goodman SI: Type 2 hyperprolinemia: absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity. Science. 1974 Sep 20;185(156):1053-4. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/4369405" SMP00210,"Purine Nucleoside Phosphorylase Deficiency","# ""Uniprot: P00491"":http://www.uniprot.org/uniprot/P00491 # ""OMIM: Entry 164050"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164050 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 88) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Cohen A, Doyle D, Martin DW Jr, Ammann AJ: Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase. N Engl J Med. 1976 Dec 23;295(26):1449-54. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/825775 # Fox IH, Andres CM, Gelfand EW, Biggar D: Purine nucleoside phosphorylase deficiency: altered kinetic properties of a mutant enzyme. Science. 1977 Sep 9;197(4308):1084-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/407651 # Markert ML: Purine nucleoside phosphorylase deficiency. Immunodefic Rev. 1991;3(1):45-81. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1931007" SMP00212,"Pyruvate Dehydrogenase Complex Deficiency ","# ""Wikipedia: Pyruvate dehydrogenase deficiency"":http://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency # ""OMIM: Entry 312170"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312170 # ""Uniprot: P08559"":http://www.uniprot.org/uniprot/P08559 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 124) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Blass JP, Kark AP, Engel WK: Clinical studies of a patient with pyruvate decarboxylase deficiency. Arch Neurol. 1971 Nov;25(5):449-60. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/5110887 # Brown GK, Otero LJ, LeGris M, Brown RM: Pyruvate dehydrogenase deficiency. J Med Genet. 1994 Nov;31(11):875-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7853374 # De Meirleir L, Specola N, Seneca S, Lissens W: Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings. J Inherit Metab Dis. 1998 Jun;21(3):224-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9686362 # Matthews PM, Brown RM, Otero LJ, Marchington DR, LeGris M, Howes R, Meadows LS, Shevell M, Scriver CR, Brown GK: Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. Brain. 1994 Jun;117 ( Pt 3):435-43. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8032855" SMP00214,"S-Adenosylhomocysteine (SAH) Hydrolase Deficiency","# ""Uniprot: A8K307"":http://www.uniprot.org/uniprot/A8K307 # ""Wikipedia: S-adenosylhomocysteine hydrolase deficiency"":http://en.wikipedia.org/wiki/S-adenosylhomocysteine_hydrolase_deficiency # ""OMIM: Entry 180960"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180960 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 92) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Baric I, Fumic K, Glenn B, Cuk M, Schulze A, Finkelstein JD, James SJ, Mejaski-Bosnjak V, Pazanin L, Pogribny IP, Rados M, Sarnavka V, Scukanec-Spoljar M, Allen RH, Stabler S, Uzelac L, Vugrek O, Wagner C, Zeisel S, Mudd SH: S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Proc Natl Acad Sci U S A. 2004 Mar 23;101(12):4234-9. Epub 2004 Mar 15. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15024124" SMP00215,Sialidosis,"# ""Wikipedia: Sialidosis"":http://en.wikipedia.org/wiki/Sialidosis # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 97) (2nd ed). Heilbronn: SPS Verlagsgesellschaft" SMP00216,"Sialuria or French Type Sialuria","# ""Uniprot: Q9Y223"":http://www.uniprot.org/uniprot/Q9Y223 # ""OMIM: Entry 269921"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269921 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 98) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Enns GM, Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA, Packman S.: Clinical course and biochemistry of sialuria. J Inherit Metab Dis. 2001 Jun;24(3):328-36. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11486897 # Leroy JG, Seppala R, Huizing M, Dacremont G, De Simpel H, Van Coster RN, et al.: Dominant inheritance of sialuria, an inborn error of feedback inhibition. Am J Hum Genet. 2001 Jun;68(6):1419-27. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11326336 # Weiss P, Tietze F, Gahl WA, Seppala R, Ashwell G.: Identification of the metabolic defect in sialuria. J Biol Chem. 1989 Oct 25;264(30):17635-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2808337" SMP00218,"Tyrosinemia Type I","# ""Uniprot: P16930"":http://www.uniprot.org/uniprot/P16930 # ""OMIM: Entry 276700"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276700 # Berger R, Smit GP, Stoker-de Vries SA, Duran M, Ketting D, Wadman SK.: Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia. Clin Chim Acta. 1981 Jul 18;114(1):37-44. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7249373 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 101) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Grompe M, St-Louis M, Demers SI, al-Dhalimy M, Leclerc B, Tanguay RM.: A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. N Engl J Med. 1994 Aug 11;331(6):353-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8028615 # Kvittingen EA, Rootwelt H, Brandtzaeg P, Bergan A, Berger R.: Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect. J Clin Invest. 1993 Apr;91(4):1816-21. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8473520" SMP00219,"UMP Synthase Deiciency (Orotic Aciduria)","# ""OMIM: Entry 258900"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258900 # ""Wikipedia: Uridine monophosphate synthetase"":http://en.wikipedia.org/wiki/Uridine_monophosphate_synthetase # ""Uniprot: A8K5J1"":http://www.uniprot.org/uniprot/A8K5J1 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 102) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Becroft DM, Phillips LI, Simmonds A: Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil. J Pediatr. 1969 Nov;75(5):885-91. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/5347440 # Qumsiyeh MB, Valentine MB, Suttle DP: Localization of the gene for uridine monophosphate synthase to human chromosome region 3q13 by in situ hybridization. Genomics. 1989 Jul;5(1):160-2. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2767686 # Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y: Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. Am J Hum Genet. 1997 Mar;60(3):525-39. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9042911 # Winkler JK, Suttle DP: Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts. Am J Hum Genet. 1988 Jul;43(1):86-94. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2837086" SMP00220,"Xanthine Dehydrogenase Deficiency (Xanthinuria)","# ""Uniprot: P47989"":http://www.uniprot.org/uniprot/P47989 # ""OMIM: Entry 278300"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278300 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 104) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Cifuentes Delatte L, Castro-Mendoza H: [Familial xanthinuria] Rev Clin Esp. 1967 Nov 30;107(4):244-56. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/5629078 # Frayha RA, Salti IS, Arnaout A, Khatchadurian A, Uthman SM: Hereditary xanthinuria: report on three patients and short review of the literature. Nephron. 1977;19(6):328-32. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/927625 # Carpenter TO, Lebowitz RL, Nelson D, Bauer S: Hereditary xanthinuria presenting in infancy with nephrolithiasis. J Pediatr. 1986 Aug;109(2):307-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3755469 # Auscher C, Pasquier C, de Gery A, Weissenbach R, Delbarre F: Xanthinuria : study of a large kindred with familial urolithiasis and gout. Biomedicine. 1977 Mar;27(2):57-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/861350" SMP00221,"Methionine Adenosyltransferase Deficiency","# ""Uniprot: Q9NZL9"":http://www.uniprot.org/uniprot/Q9NZL9 # ""OMIM: Entry 250850"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250850 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 69) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Blom HJ, Davidson AJ, Finkelstein JD, Luder AS, Bernardini I, Martin JJ, Tangerman A, Trijbels JM, Mudd SH, Goodman SI, et al.: Persistent hypermethioninaemia with dominant inheritance. J Inherit Metab Dis. 1992;15(2):188-97. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1527987 # Chamberlin ME, Ubagai T, Mudd SH, Levy HL, Chou JY: Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. Am J Hum Genet. 1997 Mar;60(3):540-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9042912 # Gaull GE, Bender AN, Vulovic D, Tallan HH, Schaffner F: Methioninemia and myopathy: a new disorder. Ann Neurol. 1981 May;9(5):423-32. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7271238 # Gahl WA, Finkelstein JD, Mullen KD, Bernardini I, Martin JJ, Backlund P, Ishak KG, Hoofnagle JH, Mudd SH: Hepatic methionine adenosyltransferase deficiency in a 31-year-old man. Am J Hum Genet. 1987 Jan;40(1):39-49. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3812486" SMP00222,"Glycine N-methyltransferase Deficiency","# ""Uniprot: Q14749"":http://www.uniprot.org/uniprot/Q14749 # ""OMIM: Entry 606664"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606664 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 51) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Luka Z, Cerone R, Phillips JA 3rd, Mudd HS, Wagner C: Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. Hum Genet. 2002 Jan;110(1):68-74. Epub 2001 Dec 7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11810299 # Mudd SH, Cerone R, Schiaffino MC, Fantasia AR, Minniti G, Caruso U, Lorini R, Watkins D, Matiaszuk N, Rosenblatt DS, Schwahn B, Rozen R, LeGros L, Kotb M, Capdevila A, Luka Z, Finkelstein JD, Tangerman A, Stabler SP, Allen RH, Wagner C: Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia. J Inherit Metab Dis. 2001 Aug;24(4):448-64. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11596649" SMP00223,"Non Ketotic Hyperglycinemia","# ""Uniprot: P48728"":http://www.uniprot.org/uniprot/P48728 # ""OMIM: Entry 605899"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605899 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 79) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Applegarth DA, Toone JR: Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Mol Genet Metab. 2001 Sep-Oct;74(1-2):139-46. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11592811 # Cole DE, Meek DC: Juvenile non-ketotic hyperglycinaemia in three siblings. J Inherit Metab Dis. 1985;8 Suppl 2:123-4. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3930859 # Flannery DB, Pellock J, Bousounis D, Hunt P, Nance C, Wolf B: Nonketotic hyperglycinemia in two retarded adults: a mild form of infantile nonketotic hyperglycinemia. Neurology. 1983 Aug;33(8):1064-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6683804 # Hayasaka K, Tada K, Kikuchi G, Winter S, Nyhan WL: Nonketotic hyperglycinemia: two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system. Pediatr Res. 1983 Dec;17(12):967-70. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6336599" SMP00225,"Esomeprazole Pathway","# DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.621-623. New York: McGraw-Hill Medical Publishing Division. # Horn, J. (2000). The proton-pump inhibitors: Similarities and differences. _Clinical Therapeutics, 22_(3), 266-280. ""PMID: 10963283"":http://www.ncbi.nlm.nih.gov/pubmed/10963283 # Nexium. (2009). [Electronic version]. e-CPS. Retrieved July 1, 2009." SMP00226,"Omeprazole Pathway","# DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.621-623. New York: McGraw-Hill Medical Publishing Division. # Horn, J. (2000). The proton-pump inhibitors: Similarities and differences. _Clinical Therapeutics, 22_(3), 266-280. ""PMID: 10963283"":http://www.ncbi.nlm.nih.gov/pubmed/10963283 # Losec. (2009). [Electronic version]. e-CPS. Retrieved July 1, 2009." SMP00227,"Lansoprazole Pathway","# DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.621-623. New York: McGraw-Hill Medical Publishing Division. # Horn, J. (2000). The proton-pump inhibitors: Similarities and differences. _Clinical Therapeutics, 22_(3), 266-280. ""PMID: 10963283"":http://www.ncbi.nlm.nih.gov/pubmed/10963283 # Prevacid. (2009). [Electronic version]. e-CPS. Retrieved July 1, 2009." SMP00228,"Pantoprazole Pathway","# DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.621-623. New York: McGraw-Hill Medical Publishing Division. # Horn, J. (2000). The proton-pump inhibitors: Similarities and differences. _Clinical Therapeutics, 22_(3), 266-280. ""PMID: 10963283"":http://www.ncbi.nlm.nih.gov/pubmed/10963283 # Pantoloc. (2009). [Electronic version]. e-CPS. Retrieved July 1, 2009." SMP00229,"Rabeprazole Pathway","# DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.621-623. New York: McGraw-Hill Medical Publishing Division. # Horn, J. (2000). The proton-pump inhibitors: Similarities and differences. _Clinical Therapeutics, 22_(3), 266-280. ""PMID: 10963283"":http://www.ncbi.nlm.nih.gov/pubmed/10963283 # Pariet. (2009). [Electronic version]. e-CPS. Retrieved July 1, 2009." SMP00230,"Ranitidine Pathway","# Bertacinni, G., & Coruzzi, G. (1989). Control of gastric acid secretion by histamine H2 receptor antagonists and anticholinergics. _Pharmacological Research, 21_(4), 339-352. ""PMID: 2570417"":http://www.ncbi.nlm.nih.gov/pubmed/2570417 # Pounder, R.E. (1984). Histamine H2 antagonists and gastric acid secretion. _Pharmacology & Therapeutics, 26_, 221-234. ""PMID: 6152495"":http://www.ncbi.nlm.nih.gov/pubmed/6152495 # Shamburek, R.D., & Schubert, M.L. (1993). Pharmacology of gastric acid inhibition. _Bailliere's Clinical Gastroenterology, 7_(1), 23-54. ""PMID: 8097411"":http://www.ncbi.nlm.nih.gov/pubmed/8097411" SMP00231,"Famotidine Pathway","# Bertacinni, G., & Coruzzi, G. (1989). Control of gastric acid secretion by histamine H2 receptor antagonists and anticholinergics. _Pharmacological Research, 21_(4), 339-352. ""PMID: 2570417"":http://www.ncbi.nlm.nih.gov/pubmed/2570417 # Pounder, R.E. (1984). Histamine H2 antagonists and gastric acid secretion. _Pharmacology & Therapeutics, 26_, 221-234. ""PMID: 6152495"":http://www.ncbi.nlm.nih.gov/pubmed/6152495 # Shamburek, R.D., & Schubert, M.L. (1993). Pharmacology of gastric acid inhibition. _Bailliere's Clinical Gastroenterology, 7_(1), 23-54. ""PMID: 8097411"":http://www.ncbi.nlm.nih.gov/pubmed/8097411" SMP00232,"Cimetidine Pathway","# Bertacinni, G., & Coruzzi, G. (1989). Control of gastric acid secretion by histamine H2 receptor antagonists and anticholinergics. _Pharmacological Research, 21_(4), 339-352. ""PMID: 2570417"":http://www.ncbi.nlm.nih.gov/pubmed/2570417 # Cimetidine. (2009). [Electronic version]. e-CPS. Retrieved July 2, 2009. # Pounder, R.E. (1984). Histamine H2 antagonists and gastric acid secretion. _Pharmacology & Therapeutics, 26_, 221-234. ""PMID: 6152495"":http://www.ncbi.nlm.nih.gov/pubmed/6152495" SMP00233,"Nizatidine Pathway","# Bertacinni, G., & Coruzzi, G. (1989). Control of gastric acid secretion by histamine H2 receptor antagonists and anticholinergics. _Pharmacological Research, 21_(4), 339-352. ""PMID: 2570417"":http://www.ncbi.nlm.nih.gov/pubmed/2570417 # Pounder, R.E. (1984). Histamine H2 antagonists and gastric acid secretion. _Pharmacology & Therapeutics, 26_, 221-234. ""PMID: 6152495"":http://www.ncbi.nlm.nih.gov/pubmed/6152495 # Shamburek, R.D., & Schubert, M.L. (1993). Pharmacology of gastric acid inhibition. _Bailliere's Clinical Gastroenterology, 7_(1), 23-54. ""PMID: 8097411"":http://www.ncbi.nlm.nih.gov/pubmed/8097411" SMP00235,"Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD Deficiency)","# ""Uniprot: P16219"":http://www.uniprot.org/uniprot/P16219 # ""OMIM: Entry 201470"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201470 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 96) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Amendt BA, Freneaux E, Reece C, Wood PA, Rhead WJ: Short-chain acyl-coenzyme A dehydrogenase activity, antigen, and biosynthesis are absent in the BALB/cByJ mouse. Pediatr Res. 1992 Jun;31(6):552-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1635815 # Bhala A, Willi SM, Rinaldo P, Bennett MJ, Schmidt-Sommerfeld E, Hale DE: Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr. 1995 Jun;126(6):910-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7776094 # Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N: Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res. 2001 Jan;49(1):18-23. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11134486 # Naito E, Indo Y, Tanaka K: Short chain acyl-coenzyme A dehydrogenase (SCAD) deficiency. Immunochemical demonstration of molecular heterogeneity due to variant SCAD with differing stability. J Clin Invest. 1989 Nov;84(5):1671-4. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2808706" SMP00236,"Propionic Acidemia","# ""OMIM: Entry 606054"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606054 # ""Uniprot: P05166"":http://www.uniprot.org/uniprot/P05166 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 87) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Ando T, Rasmussen K, Nyhan WL, Donnell GN, Barnes ND: Propionic acidemia in patients with ketotic hyperglycinemia. J Pediatr. 1971 May;78(5):827-32. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/5581587 # Desviat LR, Clavero S, Perez-Cerda C, Navarrete R, Ugarte M, Perez B: New splicing mutations in propionic acidemia. J Hum Genet. 2006;51(11):992-7. Epub 2006 Oct 19. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/17051315 # Ohura T, Miyabayashi S, Narisawa K, Tada K: Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients. Hum Genet. 1991 May;87(1):41-4. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2037281 # Wolf B, Willard HF, Rosenberg LE: Kinetic analysis of genetic complementation in heterokaryons of propionyl CoA carboxylase-deficient human fibroblasts. Am J Hum Genet. 1980 Jan;32(1):16-25. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7361761" SMP00237,"3-Methylcrotonyl Coa Carboxylase Deficiency Type I","# Baumgartner, MR: Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. J Inherit Metab Dis. 2005;28(3):301-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15868465 # Baumgartner MR, Dantas MF, Suormala T, Almashanu S, Giunta C, Friebel D, Gebhardt B, Fowler B, Hoffmann GF, Baumgartner ER, Valle D. Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. Am J Hum Genet. 2004 Nov;75(5):790-800. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15359379" SMP00238,"Isovaleric Aciduria","# ""Uniprot: P26440"":http://www.uniprot.org/uniprot/P26440 # ""OMIM: Entry 243500"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243500 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 61) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Ando T, Nyhan WL, Bachmann C, Rasmussen K, Scott R, Smith EK: Isovaleric acidemia: identification of isovalerate, isovalerylglycine, and 3-hydroxyisovalerate in urine of a patient previously reported as having butyric and hexanoic acidemia. J Pediatr. 1973 Feb;82(2):243-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/4684367 # Efron ML: Isovaleric acidemia. Am J Dis Child. 1967 Jan;113(1):74-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6015910 # Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grunert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D: A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet. 2004 Dec;75(6):1136-42. Epub 2004 Oct 14. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15486829 # Vockley J, Parimoo B, Tanaka K: Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. Am J Hum Genet. 1991 Jul;49(1):147-57. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2063866" SMP00239,"Saccharopinuria/Hyperlysinemia II","# Dancis J, Hutzler J, Cox RP. Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology. Am J Hum Genet. 1979 May;31(3):290-9. ""Pubmed"":hhtp://www.ncbi.nlm.nih.gov/pubmed/1685795 # Higashino K. Saccharopinuria (a variant form of familial hyperlysinemia). Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):191-4. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9590025" SMP00240,"Salla Disease/Infantile Sialic Acid Storage Disease","# ""OMIM: Entry 269920"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269920 # ""Uniprot: Q9NRA2"":http://www.uniprot.org/uniprot/Q9NRA2 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 98) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Berra B, Gornati R, Rapelli S, Gatti R, Mancini GM, Ciana G, Bembi B: Infantile sialic acid storage disease: biochemical studies. Am J Med Genet. 1995 Jul 31;58(1):24-31. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7573152 # Cameron PD, Dubowitz V, Besley GT, Fensom AH: Sialic acid storage disease. Arch Dis Child. 1990 Mar;65(3):314-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2334213 # Lemyre E, Russo P, Melancon SB, Gagne R, Potier M, Lambert M: Clinical spectrum of infantile free sialic acid storage disease. Am J Med Genet. 1999 Feb 19;82(5):385-91. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10069709 # Mancini GM, Beerens CE, Aula PP, Verheijen FW: Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. J Clin Invest. 1991 Apr;87(4):1329-35. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2010546" SMP00242,"Dimethylglycine Dehydrogenase Deficiency","# Moolenaar SH, Poggi-Bach J, Engelke UF, Corstiaensen JM, Heerschap A, de Jong JG, Binzak BA, Vockley J, Wevers RA. Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study. Clin Chem. 1999 Apr;45(4):459-64. ""Pubmed"": http://www.ncbi.nlm.nih.gov/pubmed/10102904 # Binzak BA, Vockley JG, Jenkins RB, Vockley J. Structure and analysis of the human dimethylglycine dehydrogenase gene. Mol Genet Metab. 2000 Mar;69(3):181-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10767172" SMP00243,"4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency ","# ""OMIM: Entry 271980"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271980 # ""Uniprot: P51649"":http://www.uniprot.org/uniprot/P51649 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 118) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Akaboshi S, Hogema BM, Novelletto A, Malaspina P, Salomons GS, Maropoulos GD, Jakobs C, Grompe M, Gibson KM: Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum Mutat. 2003 Dec;22(6):442-50. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/14635103 # Blasi P, Palmerio F, Caldarola S, Rizzo C, Carrozzo R, Gibson KM, Novelletto A, Deodato F, Cappa M, Dioni-Vici C, Malaspina P: Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation. Clin Genet. 2006 Mar;69(3):294-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/16542398 # Gibson KM, Christensen E, Jakobs C, Fowler B, Clarke MA, Hammersen G, Raab K, Kobori J, Moosa A, Vollmer B, Rossier E, Iafolla AK, Matern D, Brouwer OF, Finkelstein J, Aksu F, Weber HP, Bakkeren JA, Gabreels FJ, Bluestone D, Barron TF, Beauvais P, Rabier D, Santos C, Lehnert W, et al.: The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics. 1997 Apr;99(4):567-74. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9093300 # Gibson KM, Hoffmann GF, Hodson AK, Bottiglieri T, Jakobs C: 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics. 1998 Feb;29(1):14-22. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9553943" SMP00244,Sarcosinemia,"# ""Uniprot: Q9UL12"":http://www.uniprot.org/uniprot/Q9UL12 # ""OMIM: Entry 268900"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268900 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 95) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Gerritsen T, Waisman HA: Hypersarcosinemia: an inborn error of metabolism. N Engl J Med. 1966 Jul 14;275(2):66-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/5936868 # Meissner T, Mayatepek E: Sarcosinaemia in a patient with severe progressive neurological damage and hypertrophic cardiomyopathy. J Inherit Metab Dis. 1997 Sep;20(5):717-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9323574 # Scott CR, Clark SH, Teng CC, Swedberg KR: Clinical and cellular studies of sarcosinemia. J Pediatr. 1970 Nov;77(5):805-11. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/5504071 # Sewell AC, Krille M, Wilhelm I: Sarcosinaemia in a retarded, amaurotic child. Eur J Pediatr. 1986 Feb;144(5):508-10. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2420598" SMP00245,"Glucose Transporter Defect (SGLT2)","# Santer, Rene. ""Disorders of Glucose Transport"". Blau, N. (2003) _Physician's guide to the laboratory diagnosis of metabolic diseases_. (pp 357-358) (2nd ed.) New York: Springer Publishing Company." SMP00246,"Pirenzepine Pathway","# Bertacinni, G., & Coruzzi, G. (1989). Control of gastric acid secretion by histamine H2 receptor antagonists and anticholinergics. _Pharmacological Research, 21_(4), 339-352. ""PMID: 2570417"":http://www.ncbi.nlm.nih.gov/pubmed/2570417 # Shamburek, R.D., & Schubert, M.L. (1993). Pharmacology of gastric acid inhibition. _Bailliere's Clinical Gastroenterology, 7_(1), 23-54. ""PMID: 8097411"":http://www.ncbi.nlm.nih.gov/pubmed/8097411" SMP00247,"Azithromycin Pathway","# Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer. # Zithromax. (2009). [Electronic version]. e-CPS. Retrieved July 17, 2009." SMP00248,"Clarithromycin Pathway","# Biaxin/Biaxin BID/Biaxin XL . (2009). [Electronic version]. e-CPS. Retrieved July 17, 2009. # Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer." SMP00249,"Clindamycin Pathway","# Dalacin C. (2009). [Electronic version]. e-CPS. Retrieved July 17, 2009. # Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer." SMP00250,"Erythromycin Pathway","# Erythromycin (CPhA monograph). (2009). [Electronic version]. e-CPS. Retrieved July 17, 2009. # Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer." SMP00251,"Roxithromycin Pathway","# Roxithromycin. (n.d.). In _DrugBank_. Retrieved July 17, 2009, from ""http://www.drugbank.ca"":http://www.drugbank.ca/drugs/DB00778 # Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer." SMP00252,"Telithromycin Pathway","# Ketek. (2009). [Electronic version]. e-CPS. Retrieved July 17, 2009. # Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer." SMP00253,"Amikacin Pathway","# Amikacin (CPhA monograph). (2009). [Electronic version]. e-CPS. Retrieved July 17, 2009. # Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer." SMP00254,"Gentamicin Pathway","# Gentamicin (CPhA monograph). (2009). [Electronic version]. e-CPS. Retrieved July 17, 2009. # Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer." SMP00255,"Kanamycin Pathway","# Kanamycin. (n.d.). In _DrugBank_. Retrieved July 17, 2009, from ""http://www.drugbank.ca"":http://www.drugbank.ca/drugs/DB01172 # Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer." SMP00256,"Neomycin Pathway","# Neomycin. (n.d.). In _DrugBank_. Retrieved July 17, 2009, from ""http://www.drugbank.ca"":http://www.drugbank.ca/drugs/DB00994 # Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer." SMP00257,"Netilmicin Pathway","# Netilmicin. (n.d.). In _DrugBank_. Retrieved July 17, 2009, from ""http://www.drugbank.ca"":http://www.drugbank.ca/drugs/DB00955 # Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer." SMP00258,"Spectinomycin Pathway","# Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer. # Spectinomycin. (n.d.). In _DrugBank_. Retrieved July 17, 2009, from ""http://www.drugbank.ca"":http://www.drugbank.ca/drugs/DB00919" SMP00259,"Streptomycin Pathway","# Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer. # Streptomycin (CPhA monograph). (2009). [Electronic version]. e-CPS. Retrieved July 17, 2009." SMP00260,"Clopidogrel Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Mega, J.L., Close, S.L., Wiviott, S.D., Shen, L., Hockett, R.D., Brandt, J.T., _et al._ (2009). Cytochrome p-450 polymorphisms and response to clopidogrel. _New England Journal of Medicine, 360_(4), 411-413. ""PMID: 19106084"":http://www.ncbi.nlm.nih.gov/pubmed/19106084 # Plavix. (2009). [Electronic version]. e-CPS. Retrieved June 24, 2009." SMP00261,"Ticlopidine Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Saltiel, E., & Ward, A. (1987). Ticlopidine. A review of its pharmacodynamic and pharmacokinetic properties, and therapeutic efficacy in platelet-dependent disease states. _Drugs, 34_(2), 222-262. ""PMID: 3304967"":http://www.ncbi.nlm.nih.gov/pubmed/3304967" SMP00262,"Clomocycline Pathway","# Clomocycline. (n.d.). In _DrugBank_. Retrieved July 17, 2009, from ""http://www.drugbank.ca"":http://www.drugbank.ca/drugs/DB00453 # Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer." SMP00263,"Cilostazol Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Curr Opin Cardiol, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Kimura, Y., Tani, T., Kanbe, T., & Watanabe, K. (1985). Effect of cilostazol on platelet aggregation and experimental thrombosis. _Arzneimittelforschung, 35_(7A), 1144-1149. ""PMID: 4074426"":http://www.ncbi.nlm.nih.gov/pubmed/4074426" SMP00264,"Dipyridamole Pathway","# Aggrenox. (2009). [Electronic version]. e-CPS. Retrieved June 24, 2009. # Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Curr Opin Cardiol, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712" SMP00265,"Abciximab Pathway","# Ciccone, A., Abraha, & I. Santilli, I. (2006). Glycoprotein IIb-IIIa inhibitors for acute ischaemic stroke. _Cochrane Database Syst Rev, 18_(4), CD005208. ""PMID: 17054247"":http://www.ncbi.nlm.nih.gov/pubmed/17054247 # Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Curr Opin Cardiol, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712" SMP00266,"Eptifibatide Pathway","# Ciccone, A., Abraha, & I. Santilli, I. (2006). Glycoprotein IIb-IIIa inhibitors for acute ischaemic stroke. _Cochrane Database Syst Rev, 18_(4), CD005208. ""PMID: 17054247"":http://www.ncbi.nlm.nih.gov/pubmed/17054247 # Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Curr Opin Cardiol, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712" SMP00267,"Tirofiban Pathway","# Ciccone, A., Abraha, & I. Santilli, I. (2006). Glycoprotein IIb-IIIa inhibitors for acute ischaemic stroke. _Cochrane Database Syst Rev, 18_(4), CD005208. ""PMID: 17054247"":http://www.ncbi.nlm.nih.gov/pubmed/17054247 # Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Curr Opin Cardiol, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712" SMP00268,"Warfarin Pathway","# Coumadin. (2009). [Electronic version]. e-CPS. Retrieved June 26, 2009. # Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Curr Opin Cardiol, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _Br J Anaesth, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00269,"Acenocoumarol Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Curr Opin Cardiol, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _Br J Anaesth, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00270,"Dicumarol Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Curr Opin Cardiol, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _Br J Anaesth, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00271,"Phenprocoumon Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Curr Opin Cardiol, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _Br J Anaesth, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00272,"Enoxaparin Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Lovenox. (2009). [Electronic version]. e-CPS. Retrieved June 26, 2009. # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _British Journal of Anaesthesia, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00273,"Fondaparinux Pathway","# Arixtra. (2009). [Electronic version]. e-CPS. Retrieved June 26, 2009. # Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _British Journal of Anaesthesia, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00274,"Heparin Pathway","# Heparin: Unfractionated. (2009). [Electronic version]. e-CPS. Retrieved June 26, 2009. # Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _British Journal of Anaesthesia, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00275,"Ardeparin Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _British Journal of Anaesthesia, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00276,"Argatroban Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _British Journal of Anaesthesia, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00277,"Bivalirudin Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _British Journal of Anaesthesia, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00278,"Lepirudin Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _British Journal of Anaesthesia, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00279,"Ximelagatran Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _British Journal of Anaesthesia, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00280,"Alteplase Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _British Journal of Anaesthesia, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00281,"Anistreplase Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _British Journal of Anaesthesia, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00282,"Streptokinase Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Streptokinase. (2009). [Electronic version]. e-CPS. Retrieved June 26, 2009. # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _British Journal of Anaesthesia, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00283,"Tenecteplase Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # TNKase. (2009). [Electronic version]. e-CPS. Retrieved June 26, 2009. # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _British Journal of Anaesthesia, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00284,"Urokinase Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _British Journal of Anaesthesia, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00285,"Reteplase Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _British Journal of Anaesthesia, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00286,"Aminocaproic Acid Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _British Journal of Anaesthesia, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00287,"Tranexamic Acid Pathway","# Cyklokapron. (2009). [Electronic version]. e-CPS. Retrieved June 26, 2009. # Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _British Journal of Anaesthesia, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00288,"Aprotinin Pathway","# Jennings, L.K., & Saucedo, J.F. (2008). Antiplatelet and anticoagulant agents: key differences in mechanisms of action, clinical application, and therapeutic benefit in patients with non-ST-segment-elevation acute coronary syndromes. _Current Opinion in Cardiology, 23_(4), 302-308. ""PMID: 18520712"":http://www.ncbi.nlm.nih.gov/pubmed/18520712 # Walker, C.P., & Royston, D. (2002). Thrombin generation and its inhibition: a review of the scientific basis and mechanism of action of anticoagulant therapies. _British Journal of Anaesthesia, 88_(6), 848-863. ""PMID: 12173205"":http://www.ncbi.nlm.nih.gov/pubmed/12173205" SMP00289,"Diflunisal Pathway","# Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 279-283). Berlin, Germany: Springer. # Breyer, R.M., & Breyer, M.D. (2004). Prostanoids. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 752-757). Berlin, Germany: Springer. # Diflunisal (CPhA monograph). (2009). [Electronic version]. e-CPS. Retrieved August 15, 2009. # Geisslinger, G., & Lötsch, J. (2004). Non-steroidal anti-inflammatory drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 667-671). Berlin, Germany: Springer." SMP00290,"Demeclocycline Pathway","# Demeclocycline. (n.d.). In _DrugBank_. Retrieved July 17, 2009, from ""http://www.drugbank.ca"":http://www.drugbank.ca/drugs/DB00618 # Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer." SMP00291,"Doxycycline Pathway","# Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer. # Vibra-Tabs. (2009). [Electronic version]. e-CPS. Retrieved July 17, 2009." SMP00292,"Minocycline Pathway","# Minocin. (2009). [Electronic version]. e-CPS. Retrieved July 17, 2009. # Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer." SMP00293,"Oxytetracycline Pathway","# Oxytetracycline. (n.d.). In _DrugBank_. Retrieved July 17, 2009, from ""http://www.drugbank.ca"":http://www.drugbank.ca/drugs/DB00595 # Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer." SMP00294,"Tetracycline Pathway","# Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer. # Tetracyclines (CPhA monograph). (2009). [Electronic version]. e-CPS. Retrieved July 17, 2009." SMP00295,"Lymecycline Pathway","# Lymecycline. (n.d.). In _DrugBank_. Retrieved July 17, 2009, from ""http://www.drugbank.ca"":http://www.drugbank.ca/drugs/DB00256 # Song, K.S. (2004). Ribosomal protein synthesis inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 827-833). Berlin, Germany: Springer." SMP00296,"Acebutolol Pathway","# Apo-acebutolol. (2009). [Electronic version]. e-CPS. Retrieved July 25, 2009. # Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. _Journal of Clinical and Basic Cardiology, 1_(1), 5-9. # DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.207-208. New York: McGraw-Hill Medical Publishing Division." SMP00297,"Alprenolol Pathway","# Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. _Journal of Clinical and Basic Cardiology, 1_(1), 5-9. # DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.207-208. New York: McGraw-Hill Medical Publishing Division." SMP00298,"Atenolol Pathway","# Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. _Journal of Clinical and Basic Cardiology, 1_(1), 5-9. # DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.207-208. New York: McGraw-Hill Medical Publishing Division. # Tenormin. (2009). [Electronic version]. e-CPS. Retrieved July 25, 2009." SMP00299,"Betaxolol Pathway","# Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. _Journal of Clinical and Basic Cardiology, 1_(1), 5-9. # DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.207-208. New York: McGraw-Hill Medical Publishing Division." SMP00300,"Bisoprolol Pathway","# Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. _Journal of Clinical and Basic Cardiology, 1_(1), 5-9. # DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.207-208. New York: McGraw-Hill Medical Publishing Division. # Monocor. (2009). [Electronic version]. e-CPS. Retrieved July 25, 2009." SMP00301,"Esmolol Pathway","# Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. _Journal of Clinical and Basic Cardiology, 1_(1), 5-9. # DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.207-208. New York: McGraw-Hill Medical Publishing Division." SMP00302,"Metoprolol Pathway","# Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. _Journal of Clinical and Basic Cardiology, 1_(1), 5-9. # DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.207-208. New York: McGraw-Hill Medical Publishing Division. # Lopressor. (2009). [Electronic version]. e-CPS. Retrieved July 25, 2009." SMP00303,"Nadolol Pathway","# Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. _Journal of Clinical and Basic Cardiology, 1_(1), 5-9. # DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.207-208. New York: McGraw-Hill Medical Publishing Division. # Nadolol. (2009). [Electronic version]. e-CPS. Retrieved July 25, 2009." SMP00304,"Oxprenolol Pathway","# Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. _Journal of Clinical and Basic Cardiology, 1_(1), 5-9. # DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.207-208. New York: McGraw-Hill Medical Publishing Division." SMP00305,"Penbutolol Pathway","# Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. _Journal of Clinical and Basic Cardiology, 1_(1), 5-9. # DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.207-208. New York: McGraw-Hill Medical Publishing Division." SMP00306,"Pindolol Pathway","# Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. _Journal of Clinical and Basic Cardiology, 1_(1), 5-9. # DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.207-208. New York: McGraw-Hill Medical Publishing Division. # Visken. (2009). [Electronic version]. e-CPS. Retrieved July 25, 2009." SMP00307,"Propranolol Pathway","# Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. _Journal of Clinical and Basic Cardiology, 1_(1), 5-9. # DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.207-208. New York: McGraw-Hill Medical Publishing Division. # Propranolol. (2009). [Electronic version]. e-CPS. Retrieved July 25, 2009." SMP00309,"Excitatory Neural Signalling Through 5-HTR 4 and Serotonin","# ""PMID: 8903510"":http://www.ncbi.nlm.nih.gov/pubmed/8903510 # Hegde SS, Eglen RM: Peripheral 5-HT4 receptors. FASEB J. 1996 Oct;10(12):1398-407. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/890351 # Krauss, G. (2003) _Biochemistry of signal transduction and regulation_ (3^rd^ ed.) Weinheim ; New York : Wiley-VCH" SMP00310,"Corticotropin Activation of Cortisol Production","# Naville D, Barjhoux L, Jaillard C, Saez JM, Durand P, Begeot M: Stable expression of normal and mutant human ACTH receptor: study of ACTH binding and coupling to adenylate cyclase. Mol Cell Endocrinol. 1997 Apr 25;129(1):83-90. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9175632 # Krauss, G. (2003) _Biochemistry of signal transduction and regulation_ (3^rd^ ed.) Weinheim ; New York : Wiley-VCH" SMP00311,"Excitatory Neural Signalling Through 5-HTR 7 and Serotonin ","# Vanhoenacker P, Haegeman G, Leysen JE: 5-HT7 receptors: current knowledge and future prospects. Trends Pharmacol Sci. 2000 Feb;21(2):70-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10664612 # Krauss, G. (2003) _Biochemistry of signal transduction and regulation_ (3^rd^ ed.) Weinheim ; New York : Wiley-VCH # Ruat M, Traiffort E, Leurs R, Tardivel-Lacombe J, Diaz J, Arrang JM, Schwartz JC: Molecular cloning, characterization, and localization of a high-affinity serotonin receptor (5-HT7) activating cAMP formation. Proc Natl Acad Sci U S A. 1993 Sep 15;90(18):8547-51. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8397408 # Bard JA, Zgombick J, Adham N, Vaysse P, Branchek TA, Weinshank RL: Cloning of a novel human serotonin receptor (5-HT7) positively linked to adenylate cyclase. J Biol Chem. 1993 Nov 5;268(31):23422-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8226867 # Hedlund PB, Sutcliffe JG: Functional, molecular and pharmacological advances in 5-HT7 receptor research. Trends Pharmacol Sci. 2004 Sep;25(9):481-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15559250" SMP00312,"Excitatory Neural Signalling Through 5-HTR 6 and Serotonin ","# Woolley ML, Marsden CA, Fone KC: 5-ht6 receptors. Curr Drug Targets CNS Neurol Disord. 2004 Feb;3(1):59-79. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/14965245 # Krauss, G. (2003) _Biochemistry of signal transduction and regulation_ (3^rd^ ed.) Weinheim ; New York : Wiley-VCH" SMP00313,"Lactic Acidemia","# ""OMIM: Entry 312170"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312170 # ""Uniprot: P08559"":http://www.uniprot.org/uniprot/P08559 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 63) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Birch-Machin MA, Shepherd IM, Solomon M, Yeaman SJ, Gardner-Medwin D, Sherratt HS, Lindsay JG, Aynsley-Green A, Turnbull DM: Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex. J Inherit Metab Dis. 1988;11(2):207-17. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3139934 # Blass JP, Kark AP, Engel WK: Clinical studies of a patient with pyruvate decarboxylase deficiency. Arch Neurol. 1971 Nov;25(5):449-60. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/5110887 # Brown GK, Otero LJ, LeGris M, Brown RM: Pyruvate dehydrogenase deficiency. J Med Genet. 1994 Nov;31(11):875-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7853374 # Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK: Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. Hum Genet. 2004 Jul;115(2):123-7. Epub 2004 May 11. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15138885 # Brown RM, Dahl HH, Brown GK: X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex. Genomics. 1989 Feb;4(2):174-81. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2737678 # Dahl HH, Brown GK, Brown RM, Hansen LL, Kerr DS, Wexler ID, Patel MS, De Meirleir L, Lissens W, Chun K, et al.: Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene. Hum Mutat. 1992;1(2):97-102. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1301207 # De Meirleir L, Specola N, Seneca S, Lissens W: Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings. J Inherit Metab Dis. 1998 Jun;21(3):224-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9686362" SMP00314,"Congenital Bile Acid Synthesis Defect Type II","# ""OMIM: Entry 235555"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235555 # ""Uniprot: P51857"":http://www.uniprot.org/uniprot/P51857 # Lemonde HA, Custard EJ, Bouquet J, Duran M, Overmars H, Scambler PJ, Clayton PT: Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. Gut. 2003 Oct;52(10):1494-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12970144 # Setchell KD, Suchy FJ, Welsh MB, Zimmer-Nechemias L, Heubi J, Balistreri WF: Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis. J Clin Invest. 1988 Dec;82(6):2148-57. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3198770 # Sumazaki R, Nakamura N, Shoda J, Kurosawa T, Tohma M: Gene analysis in delta 4-3-oxosteroid 5 beta-reductase deficiency. Lancet. 1997 Feb 1;349(9048):329. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9024384" SMP00315,"Cerebrotendinous Xanthomatosis (CTX)","# ""OMIM: Entry 213700"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=213700 # ""Uniprot: Q02318"":http://www.uniprot.org/uniprot/Q02318 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 34) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Berginer VM, Abeliovich D: Genetics of cerebrotendinous xanthomatosis (CTX): an autosomal recessive trait with high gene frequency in Sephardim of Moroccan origin. Am J Med Genet. 1981;10(2):151-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7315872 # Bjorkhem I, Fausa O, Hopen G, Oftebro H, Pedersen JI, Skrede S: Role of the 26-hydroxylase in the biosynthesis of bile acids in the normal state and in cerebrotendinous xanthomatosis. An in vivo study. J Clin Invest. 1983 Jan;71(1):142-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6848555 # Cali JJ, Russell DW: Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis. J Biol Chem. 1991 Apr 25;266(12):7774-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1708392 # Dotti MT, Rufa A, Federico A: Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings. J Inherit Metab Dis. 2001 Dec;24(7):696-706. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11804206" SMP00316,"Zellweger Syndrome ","# ""Uniprot: Q99424"":http://www.uniprot.org/uniprot/Q99424 # ""Uniprot: P22307"":http://www.uniprot.org/uniprot/P22307 # ""OMIM: Entry 214100"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214100 # Aikawa J, Chen WW, Kelley RI, Tada K, Moser HW, Chen GL: Low-density particles (W-particles) containing catalase in Zellweger syndrome and normal fibroblasts. Proc Natl Acad Sci U S A. 1991 Nov 15;88(22):10084-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1946426 # Barth PG, Schutgens RB, Bakkeren JA, Dingemans KP, Heymans HS, Douwes AC, van der Klei-van Moorsel JM: A milder variant of Zellweger syndrome. Eur J Pediatr. 1985 Nov;144(4):338-42. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/4076250 # Brul S, Westerveld A, Strijland A, Wanders RJ, Schram AW, Heymans HS, Schutgens RB, van den Bosch H, Tager JM: Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. J Clin Invest. 1988 Jun;81(6):1710-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2454948 # Huybrechts SJ, Van Veldhoven PP, Hoffman I, Zeevaert R, de Vos R, Demaerel P, Brams M, Jaeken J, Fransen M, Cassiman D: Identification of a novel PEX14 mutation in Zellweger syndrome. J Med Genet. 2008 Jun;45(6):376-83. Epub 2008 Feb 19. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/18285423 # Muntau AC, Mayerhofer PU, Paton BC, Kammerer S, Roscher AA: Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G. Am J Hum Genet. 2000 Oct;67(4):967-75. Epub 2000 Aug 24. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10958759" SMP00317,"Familial Hypercholanemia (FHCA)","# ""OMIM: Entry 607748"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607748 # ""Uniprot: Q14032"":http://www.uniprot.org/uniprot/Q14032 # Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN: Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet. 2003 May;34(1):91-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12704386 # Zhu QS, Xing W, Qian B, von Dippe P, Shneider BL, Fox VL, Levy D: Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia. Biochim Biophys Acta. 2003 Jul 30;1638(3):208-16. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12878321" SMP00318,"Congenital Bile Acid Synthesis Defect Type III","# ""Uniprot: O75881"":http://www.uniprot.org/uniprot/O75881 # ""OMIM: Entry 603711"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603711 # Hentati A, Pericak-Vance MA, Hung WY, Belal S, Laing N, Boustany RM, Hentati F, Ben Hamida M, Siddique T: Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Mol Genet. 1994 Aug;3(8):1263-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7987300 # Martin C, Ross M, Chapman KE, Andrew R, Bollina P, Seckl JR, Habib FK: CYP7B generates a selective estrogen receptor beta agonist in human prostate. J Clin Endocrinol Metab. 2004 Jun;89(6):2928-35. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15181079 # Setchell KD, Schwarz M, O'Connell NC, Lund EG, Davis DL, Lathe R, Thompson HR, Weslie Tyson R, Sokol RJ, Russell DW: Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease. J Clin Invest. 1998 Nov 1;102(9):1690-703. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9802883" SMP00319,"Lysosomal Acid Lipase Deficiency (Wolman Disease)","# ""Uniprot: P38571"":http://www.uniprot.org/uniprot/P38571 # ""OMIM: Entry 278000"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278000 # Anderson RA, Byrum RS, Coates PM, Sando GN: Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. Proc Natl Acad Sci U S A. 1994 Mar 29;91(7):2718-22. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8146180 # Aslanidis C, Klima H, Lackner KJ, Schmitz G: Genomic organization of the human lysosomal acid lipase gene (LIPA). Genomics. 1994 Mar 15;20(2):329-31. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8020990 # Byrd JC 3rd, Powers JM: Wolman's disease: ultrastructural evidence of lipid accumulation in central and peripheral nervous systems. Acta Neuropathol. 1979 Jan 12;45(1):37-42. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/216225 # Fujiyama J, Sakuraba H, Kuriyama M, Fujita T, Nagata K, Nakagawa H, Osame M: A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease. Hum Mutat. 1996;8(4):377-80. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8956047" SMP00321,"Intracellular Signalling Through Adenosine Receptor A2b and Adenosine","# Feoktistov I, Goldstein AE, Biaggioni I: Role of p38 mitogen-activated protein kinase and extracellular signal-regulated protein kinase kinase in adenosine A2B receptor-mediated interleukin-8 production in human mast cells. Mol Pharmacol. 1999 Apr;55(4):726-34. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10101031 # Krauss, G. (2003) _Biochemistry of signal transduction and regulation_ (3^rd^ ed.) Weinheim ; New York : Wiley-VCH" SMP00322,"Vasopressin Regulation of Water Homeostasis","# Innamorati G, Sadeghi H, Eberle AN, Birnbaumer M: Phosphorylation of the V2 vasopressin receptor. J Biol Chem. 1997 Jan 24;272(4):2486-92. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8999963 # Krauss, G. (2003) _Biochemistry of signal transduction and regulation_ (3^rd^ ed.) Weinheim ; New York : Wiley-VCH" SMP00323,"Quinidine Pathway","# Dhein, S. (2004). Antiarrhythmic drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 49-51). Berlin, Germany: Springer. # Nattel S., & Carlsson L. (2006). Innovative approaches to anti-arrhythmic drug therapy. _Nat Rev Drug Discov, 5_(12), 1034-49. ""PMID: 17139288"":http://www.ncbi.nlm.nih.gov/pubmed/17139288" SMP00324,"Procainamide (Antiarrhythmic) Pathway","# Dhein, S. (2004). Antiarrhythmic drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 49-51). Berlin, Germany: Springer. # Nattel S., & Carlsson L. (2006). Innovative approaches to anti-arrhythmic drug therapy. _Nat Rev Drug Discov, 5_(12), 1034-49. ""PMID: 17139288"":http://www.ncbi.nlm.nih.gov/pubmed/17139288" SMP00325,"Disopyramide Pathway","# Dhein, S. (2004). Antiarrhythmic drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 49-51). Berlin, Germany: Springer. # Nattel S., & Carlsson L. (2006). Innovative approaches to anti-arrhythmic drug therapy. _Nature Reviews. Drug Discovery, 5_(12), 1034-49. ""PMID: 17139288"":http://www.ncbi.nlm.nih.gov/pubmed/17139288" SMP00326,"Fosphenytoin (Antiarrhythmic) Pathway","# Dhein, S. (2004). Antiarrhythmic drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 49-51). Berlin, Germany: Springer. # Nattel S., & Carlsson L. (2006). Innovative approaches to anti-arrhythmic drug therapy. _Nature Reviews. Drug Discovery, 5_(12), 1034-49. ""PMID: 17139288"":http://www.ncbi.nlm.nih.gov/pubmed/17139288" SMP00327,"Phenytoin (Antiarrhythmic) Pathway","# Dhein, S. (2004). Antiarrhythmic drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 49-51). Berlin, Germany: Springer. # Nattel S., & Carlsson L. (2006). Innovative approaches to anti-arrhythmic drug therapy. _Nature Reviews. Drug Discovery, 5_(12), 1034-49. ""PMID: 17139288"":http://www.ncbi.nlm.nih.gov/pubmed/17139288" SMP00328,"Lidocaine (Antiarrhythmic) Pathway","# Dhein, S. (2004). Antiarrhythmic drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 49-51). Berlin, Germany: Springer. # Nattel S., & Carlsson L. (2006). Innovative approaches to anti-arrhythmic drug therapy. _Nature Reviews. Drug Discovery, 5_(12), 1034-49. ""PMID: 17139288"":http://www.ncbi.nlm.nih.gov/pubmed/17139288" SMP00329,"Mexiletine Pathway","# Dhein, S. (2004). Antiarrhythmic drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 49-51). Berlin, Germany: Springer. # Nattel S., & Carlsson L. (2006). Innovative approaches to anti-arrhythmic drug therapy. _Nature Reviews. Drug Discovery, 5_(12), 1034-49. ""PMID: 17139288"":http://www.ncbi.nlm.nih.gov/pubmed/17139288" SMP00330,"Tocainide Pathway","# Dhein, S. (2004). Antiarrhythmic drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 49-51). Berlin, Germany: Springer. # Nattel S., & Carlsson L. (2006). Innovative approaches to anti-arrhythmic drug therapy. _Nature Reviews. Drug Discovery, 5_(12), 1034-49. ""PMID: 17139288"":http://www.ncbi.nlm.nih.gov/pubmed/17139288" SMP00331,"Flecainide Pathway","# Dhein, S. (2004). Antiarrhythmic drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 49-51). Berlin, Germany: Springer. # Nattel S., & Carlsson L. (2006). Innovative approaches to anti-arrhythmic drug therapy. _Nature Reviews. Drug Discovery, 5_(12), 1034-49. ""PMID: 17139288"":http://www.ncbi.nlm.nih.gov/pubmed/" SMP00332,"Ibutilide Pathway","# Dhein, S. (2004). Antiarrhythmic drugs. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 49-51). Berlin, Germany: Springer. # Nattel S., & Carlsson L. (2006). Innovative approaches to anti-arrhythmic drug therapy. _Nature Reviews. Drug Discovery, 5_(12), 1034-49. ""PMID: 17139288"":http://www.ncbi.nlm.nih.gov/pubmed/17139288" SMP00333,"Intracellular Signalling Through FSH Receptor and Follicle Stimulating Hormone","# Simoni M, Gromoll J, Nieschlag E: The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocr Rev. 1997 Dec;18(6):739-73. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9408742 # Krauss, G. (2003) _Biochemistry of signal transduction and regulation_ (3^rd^ ed.) Weinheim ; New York : Wiley-VCH # Asatiani K, Gromoll J, Eckardstein SV, Zitzmann M, Nieschlag E, Simoni M: Distribution and function of FSH receptor genetic variants in normal men. Andrologia. 2002 Jun;34(3):172-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12059813" SMP00334,"Pyruvate Decarboxylase E1 Component Deficiency (PDHE1 Deficiency)","# ""Uniprot: P08559"":http://www.uniprot.org/uniprot/P08559 # ""Uniprot: P11177"":http://www.uniprot.org/uniprot/P11177 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 89) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Bindoff LA, Birch-Machin MA, Farnsworth L, Gardner-Medwin D, Lindsay JG, Turnbull DM: Familial intermittent ataxia due to a defect of the E1 component of pyruvate dehydrogenase complex. J Neurol Sci. 1989 Nov;93(2-3):311-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2592988 # Birch-Machin MA, Shepherd IM, Solomon M, Yeaman SJ, Gardner-Medwin D, Sherratt HS, Lindsay JG, Aynsley-Green A, Turnbull DM: Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex. J Inherit Metab Dis. 1988;11(2):207-17. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3139934 # Brown GK, Otero LJ, LeGris M, Brown RM: Pyruvate dehydrogenase deficiency. J Med Genet. 1994 Nov;31(11):875-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7853374 # Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK: Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. Hum Genet. 2004 Jul;115(2):123-7. Epub 2004 May 11. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15138885 # Dahl HH, Brown GK, Brown RM, Hansen LL, Kerr DS, Wexler ID, Patel MS, De Meirleir L, Lissens W, Chun K, et al.: Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene. Hum Mutat. 1992;1(2):97-102. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1301207" SMP00335,"Intracellular Signalling Through Histamine H2 Receptor and Histamine","# Elenkov IJ, Webster E, Papanicolaou DA, Fleisher TA, Chrousos GP, Wilder RL: Histamine potently suppresses human IL-12 and stimulates IL-10 production via H2 receptors. J Immunol. 1998 Sep 1;161(5):2586-93. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9725260 # Krauss, G. (2003) _Biochemistry of signal transduction and regulation_ (3^rd^ ed.) Weinheim ; New York : Wiley-VCH" SMP00336,"Vitamin A Deficiency","# ""Uniprot: Q9HAY6"":http://www.uniprot.org/uniprot/Q9HAY6 # ""OMIM: Entry 115300"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115300 # Attard-Montalto S, Evans N, Sherwood RA: Carotenaemia with low vitamin A levels and low retinol-binding protein. J Inherit Metab Dis. 1992;15(6):929-30. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1293390 # Sharvill DE: Familial hypercarotinaemia and hypovitaminosis A. Proc R Soc Med. 1970 Jun;63(6):605-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/5453458" SMP00337,"Glutathione Synthetase Deficiency","# ""Uniprot: P48637"":http://www.uniprot.org/uniprot/P48637 # ""OMIM: Entry 266130"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266130 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 81) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Divry P, Roulaud-Parrot F, Dorche C, Zabot MT, Contraire B, Hagenfeldt L, Larsson A: 5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome. J Inherit Metab Dis. 1991;14(3):341-4. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1770788 # Njalsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S: Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. Hum Genet. 2005 Apr;116(5):384-9. Epub 2005 Feb 17. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15717202 # Robertson PL, Buchanan DN, Muenzer J: 5-Oxoprolinuria in an adolescent with chronic metabolic acidosis, mental retardation, and psychosis. J Pediatr. 1991 Jan;118(1):92-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1986110 # Shi ZZ, Habib GM, Rhead WJ, Gahl WA, He X, Sazer S, Lieberman MW: Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. Nat Genet. 1996 Nov;14(3):361-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8896573" SMP00338,"Intracellular Signalling Through LHCGR Receptor and Luteinizing Hormone/Choriogonadotropin","# Kremer H, Kraaij R, Toledo SP, Post M, Fridman JB, Hayashida CY, van Reen M, Milgrom E, Ropers HH, Mariman E, et al.: Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nat Genet. 1995 Feb;9(2):160-4. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7719343 # Krauss, G. (2003) _Biochemistry of signal transduction and regulation_ (3^rd^ ed.) Weinheim ; New York : Wiley-VCH" SMP00339,"Hyperinsulinism-Hyperammonemia Syndrome","# ""Uniprot: P00367"":http://www.uniprot.org/uniprot/P00367 # ""OMIM: Entry 606762"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606762 # De Lonlay P, Benelli C, Fouque F, Ganguly A, Aral B, Dionisi-Vici C, Touati G, Heinrichs C, Rabier D, Kamoun P, Robert JJ, Stanley C, Saudubray JM: Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients. Pediatr Res. 2001 Sep;50(3):353-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11518822 # Glaser B, Thornton PS, Herold K, Stanley CA: Clinical and molecular heterogeneity of familial hyperinsulinism. J Pediatr. 1998 Dec;133(6):801-2. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9843361 # MacMullen C, Fang J, Hsu BY, Kelly A, de Lonlay-Debeney P, Saudubray JM, Ganguly A, Smith TJ, Stanley CA: Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase. J Clin Endocrinol Metab. 2001 Apr;86(4):1782-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11297618 # Miki Y, Taki T, Ohura T, Kato H, Yanagisawa M, Hayashi Y: Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome. J Pediatr. 2000 Jan;136(1):69-72. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10636977" SMP00340,"Methylenetetrahydrofolate Reductase Deficiency (MTHFRD)","# ""Uniprot: P42898"":http://www.uniprot.org/uniprot/P42898 # ""OMIM: Entry 236250"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236250 # Chen Z, Karaplis AC, Ackerman SL, Pogribny IP, Melnyk S, Lussier-Cacan S, Chen MF, Pai A, John SW, Smith RS, Bottiglieri T, Bagley P, Selhub J, Rudnicki MA, James SJ, Rozen R: Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. Hum Mol Genet. 2001 Mar 1;10(5):433-43. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11181567 # Engbersen AM, Franken DG, Boers GH, Stevens EM, Trijbels FJ, Blom HJ: Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet. 1995 Jan;56(1):142-50. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7825569 # Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP, et al.: A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995 May;10(1):111-3. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7647779 # Goyette P, Christensen B, Rosenblatt DS, Rozen R: Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR. Am J Hum Genet. 1996 Dec;59(6):1268-75. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8940272" SMP00341,Hypermethioninemia,"# ""Uniprot: Q00266"":http://www.uniprot.org/uniprot/Q00266 # ""OMIM: Entry 250850"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250850 # Blom HJ, Davidson AJ, Finkelstein JD, Luder AS, Bernardini I, Martin JJ, Tangerman A, Trijbels JM, Mudd SH, Goodman SI, et al.: Persistent hypermethioninaemia with dominant inheritance. J Inherit Metab Dis. 1992;15(2):188-97. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1527987 # Chamberlin ME, Ubagai T, Mudd SH, Levy HL, Chou JY: Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. Am J Hum Genet. 1997 Mar;60(3):540-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9042912 # Finkelstein JD, Kyle WE, Martin JJ: Abnormal methionine adenosyltransferase in hypermethioninemia. Biochem Biophys Res Commun. 1975 Oct 27;66(4):1491-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1191305 # Gaull GE, Tallan HH, Lonsdale D, Przyrembel H, Schaffner F, von Bassewitz DB: Hypermethioninemia associated with methionine adenosyltransferase deficiency: clinical, morphologic, and biochemical observations on four patients. J Pediatr. 1981 May;98(5):734-41. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7229751" SMP00342,"Hereditary Coproporphyria (HCP)","# ""Uniprot: P36551"":http://www.uniprot.org/uniprot/P36551 # ""OMIM: Entry 121300"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121300 # Andrews J, Erdjument H, Nicholson DC: Hereditary coproporphyria: incidence in a large English family. J Med Genet. 1984 Oct;21(5):341-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6502649 # Barohn RJ, Sanchez JA, Anderson KE: Acute peripheral neuropathy due to hereditary coproporphyria. Muscle Nerve. 1994 Jul;17(7):793-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8008008 # Gross U, Puy H, Meissauer U, Lamoril J, Deybach JC, Doss M, Nordmann Y, Doss MO: A molecular, enzymatic and clinical study in a family with hereditary coproporphyria. J Inherit Metab Dis. 2002 Aug;25(4):279-86. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12227458 # Lamoril J, Martasek P, Deybach JC, Da Silva V, Grandchamp B, Nordmann Y: A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. Hum Mol Genet. 1995 Feb;4(2):275-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7757079" SMP00343,"Intracellular Signalling Through PGD2 receptor and Prostaglandin D2","# Boie Y, Sawyer N, Slipetz DM, Metters KM, Abramovitz M: Molecular cloning and characterization of the human prostanoid DP receptor. J Biol Chem. 1995 Aug 11;270(32):18910-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7642548 # Krauss, G. (2003) _Biochemistry of signal transduction and regulation_ (3^rd^ ed.) Weinheim ; New York : Wiley-VCH" SMP00344,"Acute Intermittent Porphyria","# ""Uniprot: P08397"":http://www.uniprot.org/uniprot/P08397 # ""OMIM: Entry 176000"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176000 # GOLDBERG A: Acute intermittent porphyria: a study of 50 cases. Q J Med. 1959 Apr;28(110):183-209. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/13658350 # Astrin KH, Desnick RJ: Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene. Hum Mutat. 1994;4(4):243-52. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7866402 # Becker DM, Kramer S: The neurological manifestations of porphyria: a review. Medicine (Baltimore). 1977 Sep;56(5):411-23. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/329053 # Beukeveld GJ, Wolthers BG, Nordmann Y, Deybach JC, Grandchamp B, Wadman SK: A retrospective study of a patient with homozygous form of acute intermittent porphyria. J Inherit Metab Dis. 1990;13(5):673-83. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2246851 # Floderus Y, Shoolingin-Jordan PM, Harper P: Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene. Clin Genet. 2002 Oct;62(4):288-97. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12372055" SMP00345,"Congenital Erythropoietic Porphyria (CEP) or Gunther Disease","# ""Uniprot: P10746"":http://www.uniprot.org/uniprot/P10746 # ""OMIM: Entry 263700"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263700 # Kappas, A.; Sassa, S.; Anderson, K. E. : The porphyrias.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.; Goldstein, J. L.; Brown, M. S. : The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (5th ed.) 1983. Pp. 1301-1384. # Bishop DF, Johansson A, Phelps R, Shady AA, Ramirez MC, Yasuda M, Caro A, Desnick RJ: Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions. Am J Hum Genet. 2006 Apr;78(4):645-58. Epub 2006 Feb 9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/16532394 # Desnick RJ, Astrin KH: Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol. 2002 Jun;117(4):779-95. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12060112 # Xu W, Astrin KH, Desnick RJ: Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene. Hum Mutat. 1996;7(3):187-92. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8829650" SMP00346,"Porphyria Variegata (PV)","# ""Uniprot: P50336"":http://www.uniprot.org/uniprot/P50336 # ""OMIM: Entry 176200"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176200 # Brenner DA, Bloomer JR: The enzymatic defect in variegate prophyria. Studies with human cultured skin fibroblasts. N Engl J Med. 1980 Apr 3;302(14):765-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7354807 # Coakley J, Hawkins R, Crinis N, McManus J, Blake D, Nordmann Y, Sloan L, Connelly J: An unusual case of variegate porphyria with possible homozygous inheritance. Aust N Z J Med. 1990 Aug;20(4):587-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2222353 # Deybach JC, Puy H, Robreau AM, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y: Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. Hum Mol Genet. 1996 Mar;5(3):407-10. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8852667 # Norris PG, Elder GH, Hawk JL: Homozygous variegate porphyria: a case report. Br J Dermatol. 1990 Feb;122(2):253-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2317449 # von und zu Fraunberg M, Timonen K, Mustajoki P, Kauppinen R: Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients. Eur J Hum Genet. 2002 Oct;10(10):649-57. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12357337" SMP00347,"Metachromatic Leukodystrophy (MLD)","# ""Uniprot: P15289"":http://www.uniprot.org/uniprot/P15289 # ""OMIM: Entry 250100"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250100 # Austin J, Armstrong D, Fouch S, Mitchell C, Stumpf D, Shearer L, Briner O: Metachromatic leukodystrophy (MLD). 8. MLD in adults; diagnosis and pathogenesis. Arch Neurol. 1968 Mar;18(3):225-40. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/5642751 # Berger J, Gmach M, Mayr U, Molzer B, Bernheimer H: Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity. Hum Mutat. 1999;13(1):61-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9888390 # Biffi A, Cesani M, Fumagalli F, Del Carro U, Baldoli C, Canale S, Gerevini S, Amadio S, Falautano M, Rovelli A, Comi G, Roncarolo MG, Sessa M: Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. Clin Genet. 2008 Oct;74(4):349-57. Epub 2008 Sep 11. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/18786133 # Bosch EP, Hart MN: Late adult-onset metachromatic leukodystrophy. Dementia and polyneuropathy in a 63-year-old man. Arch Neurol. 1978 Jul;35(7):475-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/208495" SMP00348,"Globoid Cell Leukodystrophy","# ""Uniprot: P54803"":http://www.uniprot.org/uniprot/P54803 # ""OMIM: Entry 245200"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245200 # Arroyo HA, Grippo J, Taratuto A, Duffau J, Chamoles N: Krabbe disease in monozygotic triplets. Dev Med Child Neurol. 1991 Dec;33(12):1101-3. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1778346 # De Gasperi R, Gama Sosa MA, Sartorato EL, Battistini S, MacFarlane H, Gusella JF, Krivit W, Kolodny EH: Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. Am J Hum Genet. 1996 Dec;59(6):1233-42. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8940268 # Duchen LW, Eicher EM, Jacobs JM, Scaravilli F, Teixeira F: Hereditary leucodystrophy in the mouse: the new mutant twitcher. Brain. 1980 Sep;103(3):695-710. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7417782 # Furuya H, Kukita Y, Nagano S, Sakai Y, Yamashita Y, Fukuyama H, Inatomi Y, Saito Y, Koike R, Tsuji S, Fukumaki Y, Hayashi K, Kobayashi T: Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. Hum Genet. 1997 Sep;100(3-4):450-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9272171 # Husain AM, Altuwaijri M, Aldosari M: Krabbe disease: neurophysiologic studies and MRI correlations. Neurology. 2004 Aug 24;63(4):617-20. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15326231 # Kolodny EH, Raghavan S, Krivit W: Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases. Dev Neurosci. 1991;13(4-5):232-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1817026 # Xu C, Sakai N, Taniike M, Inui K, Ozono K: Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. J Hum Genet. 2006;51(6):548-54. Epub 2006 Apr 11. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/16607461" SMP00349,"Gaucher Disease","# ""Metagene: id_d=267"":http://www.metagene.de/program/d.prg?id_d=267 # ""Uniprot: P04062"":http://www.uniprot.org/uniprot/P04062 # ""OMIM: Entry 231000"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231000 # Blom S, Erikson A: Gaucher disease--Norrbottnian type. Neurodevelopmental, neurological, and neurophysiological aspects. Eur J Pediatr. 1983 Sep;140(4):316-22. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6628452 # Dahl N, Hillborg PO, Olofsson A: Gaucher disease (Norrbottnian type III): probable founders identified by genealogical and molecular studies. Hum Genet. 1993 Nov;92(5):513-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8244344 # Dahl N, Lagerstrom M, Erikson A, Pettersson U: Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene. Am J Hum Genet. 1990 Aug;47(2):275-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2378352 # Filocamo M, Grossi S, Stroppiano M, Tortori-Donati P, Regis S, Allegri A, Di Rocco M: Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease. Am J Med Genet A. 2005 Apr 1;134A(1):95-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/15690354" SMP00350,"Pyruvate Carboxylase Deficiency","# ""OMIM: Entry 266150"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266150 # ""Uniprot: P11498"":http://www.uniprot.org/uniprot/P11498 # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 89) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Bartlett K, Ghneim HK, Stirk JH, Dale G, Alberti KG: Pyruvate carboxylase deficiency. J Inherit Metab Dis. 1984;7 Suppl 1:74-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6434849 # Brun N, Robitaille Y, Grignon A, Robinson BH, Mitchell GA, Lambert M: Pyruvate carboxylase deficiency: prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form. Am J Med Genet. 1999 May 21;84(2):94-101. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10323732 # Carbone MA, MacKay N, Ling M, Cole DE, Douglas C, Rigat B, Feigenbaum A, Clarke JT, Haworth JC, Greenberg CR, Seargeant L, Robinson BH: Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. Am J Hum Genet. 1998 Jun;62(6):1312-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9585612 # Monnot S, Serre V, Chadefaux-Vekemans B, Aupetit J, Romano S, De Lonlay P, Rival JM, Munnich A, Steffann J, Bonnefont JP: Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. Hum Mutat. 2009 May;30(5):734-40. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/19306334" SMP00351,"GABA-Transaminase Deficiency","# ""OMIM: Entry 137150"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150 # ""Metagene: id_d=32"":http://www.metagene.de/program/d.prg?id_d=32 # ""Uniprot: P80404"":http://www.uniprot.org/uniprot/P80404 # Bhattacharyya SP, Saha N, Wee KP: gamma-Aminobutyric acid transaminase (GABAT) polymorphism among ethnic groups in Singapore--with report of a new allele. Am J Hum Genet. 1985 Mar;37(2):358-61. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3985010 # Gibson KM, Nyhan WL, Jaeken J: Inborn errors of GABA metabolism. Bioessays. 1986 Jan;4(1):24-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3790108 # Medina-Kauwe LK, Tobin AJ, De Meirleir L, Jaeken J, Jakobs C, Nyhan WL, Gibson KM: 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. J Inherit Metab Dis. 1999 Jun;22(4):414-27. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10407778" SMP00352,"Primary Hyperoxaluria Type I","# ""OMIM: Entry 259900"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259900 # ""Metagene: id_d=184"":http://www.metagene.de/program/d.prg?id_d=184 # ""Uniprot: P21549"":http://www.uniprot.org/uniprot/P21549 # Boquist L, Lindqvist B, Ostberg Y, Steen L: Primary oxalosis. Am J Med. 1973 May;54(5):673-81. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/4701948 # Cochat P, Koch Nogueira PC, Mahmoud MA, Jamieson NV, Scheinman JI, Rolland MO: Primary hyperoxaluria in infants: medical, ethical, and economic issues. J Pediatr. 1999 Dec;135(6):746-50. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10586179 # Danpure CJ: Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase. Biochimie. 1993;75(3-4):309-15. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8507692 # Danpure CJ, Jennings PR: Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I. FEBS Lett. 1986 May 26;201(1):20-4. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3709805 # Latta K, Brodehl J: Primary hyperoxaluria type I. Eur J Pediatr. 1990 May;149(8):518-22. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2189732 # Milliner DS, Eickholt JT, Bergstralh EJ, Wilson DM, Smith LH: Results of long-term treatment with orthophosphate and pyridoxine in patients with primary hyperoxaluria. N Engl J Med. 1994 Dec 8;331(23):1553-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7969325" SMP00353,"Leukotriene C4 Synthesis Deficiency","# ""OMIM: Entry 246530"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246530 # ""Uniprot: Q16873"":http://www.uniprot.org/uniprot/Q16873 # Ago H, Kanaoka Y, Irikura D, Lam BK, Shimamura T, Austen KF, Miyano M: Crystal structure of a human membrane protein involved in cysteinyl leukotriene biosynthesis. Nature. 2007 Aug 2;448(7153):609-12. Epub 2007 Jul 15. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/17632548 # Kanaoka Y, Maekawa A, Penrose JF, Austen KF, Lam BK: Attenuated zymosan-induced peritoneal vascular permeability and IgE-dependent passive cutaneous anaphylaxis in mice lacking leukotriene C4 synthase. J Biol Chem. 2001 Jun 22;276(25):22608-13. Epub 2001 Apr 23. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11319240 # Lam BK, Penrose JF, Freeman GJ, Austen KF: Expression cloning of a cDNA for human leukotriene C4 synthase, an integral membrane protein conjugating reduced glutathione to leukotriene A4. Proc Natl Acad Sci U S A. 1994 Aug 2;91(16):7663-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8052639 # Mayatepek E, Flock B: Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome. Lancet. 1998 Nov 7;352(9139):1514-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9820300 # Pace-Asciak CR, Klein J, Spielberg SP: Human genetic defect in leukotriene C4 synthesis. Biochem Biophys Res Commun. 1986 Nov 14;140(3):857-60. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3022737" SMP00354,"Intracellular Signalling Through Prostacyclin Receptor and Prostacyclin","# Boie Y, Rushmore TH, Darmon-Goodwin A, Grygorczyk R, Slipetz DM, Metters KM, Abramovitz M: Cloning and expression of a cDNA for the human prostanoid IP receptor. J Biol Chem. 1994 Apr 22;269(16):12173-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7512962 # Krauss, G. (2003) _Biochemistry of signal transduction and regulation_ (3^rd^ ed.) Weinheim ; New York : Wiley-VCH" SMP00355,"Mitochondrial Electron Transport Chain","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Salway, J.G. (2004) _Metabolism at a glance_ (3 ^rd^ ed.). Alden, Mass. : Blackwell Pub." SMP00356,"17-Beta Hydroxysteroid Dehydrogenase III Deficiency","# ""OMIM: Entry 264300"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264300 # ""Uniprot: P37058"":http://www.uniprot.org/uniprot/P37058 # Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, Schwarz HP, Blethen SL, Mendonca BB, Bloise W, Witchel SF, Cutler GB Jr, Griffin JE, Wilson JD, Russel DW: Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 1996 Jan;81(1):130-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8550739 # Boehmer AL, Brinkmann AO, Sandkuijl LA, Halley DJ, Niermeijer MF, Andersson S, de Jong FH, Kayserili H, de Vroede MA, Otten BJ, Rouwe CW, Mendonca BB, Rodrigues C, Bode HH, de Ruiter PE, Delemarre-van de Waal HA, Drop SL: 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. J Clin Endocrinol Metab. 1999 Dec;84(12):4713-21. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10599740 # Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, Elliston KO, Wilson JD, Russell DW, Andersson S: Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. Nat Genet. 1994 May;7(1):34-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8075637 # Imperato-McGinley J, Peterson RE, Stoller R, Goodwin WE: Male pseudohermaphroditism secondary to 17 beta-hydroxysteroid dehydrogenase deficiency: gender role change with puberty. J Clin Endocrinol Metab. 1979 Sep;49(3):391-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/468973" SMP00357,Argininemia,"# ""OMIM: Entry 207800"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=207800 # ""Metagene: id_d=60"":http://www.metagene.de/program/d.prg?id_d=60 # Cederbaum SD, Shaw KN, Valente M: Hyperargininemia. J Pediatr. 1977 Apr;90(4):569-73. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/839368 # Christmann D, Hirsch E, Mutschler V, Collard M, Marescaux C, Colombo JP: [Late diagnosis of congenital argininemia during administration of sodium valproate] Rev Neurol (Paris). 1990;146(12):764-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2291040 # Cowley DM, Bowling FG, McGill JJ, van Dongen J, Morris D: Adult-onset arginase deficiency. J Inherit Metab Dis. 1998 Aug;21(6):677-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9762606" SMP00359,"Diltiazem Pathway","# Nattel S., & Carlsson L. (2006). Innovative approaches to anti-arrhythmic drug therapy. _Nature Reviews. Drug Discovery, 5_(12), 1034-49. ""PMID: 17139288"":http://www.ncbi.nlm.nih.gov/pubmed/17139288 # Striessnig, J. (2004). Ca ^2+^ channel blockers. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 201-207). Berlin, Germany: Springer. # Tiazac. (2009). [Electronic version]. e-CPS. Retrieved August 13, 2009." SMP00360,"Hyperprolinemia Type II","# ""OMIM: Entry 239510"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=239510 # ""Metagene: id_d=240"":http://www.metagene.de/program/d.prg?id_d=240 # Emery FA, Goldie L, Stern J: Hyperprolinaemia type 2. J Ment Defic Res. 1968 Sep;12(3):187-95. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/4972625 # Flynn MP, Martin MC, Moore PT, Stafford JA, Fleming GA, Phang JM: Type II hyperprolinaemia in a pedigree of Irish travellers (nomads). Arch Dis Child. 1989 Dec;64(12):1699-707. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2624476 # Geraghty MT, Vaughn D, Nicholson AJ, Lin WW, Jimenez-Sanchez G, Obie C, Flynn MP, Valle D, Hu CA: Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. Hum Mol Genet. 1998 Sep;7(9):1411-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9700195" SMP00361,"Hyperprolinemia Type I","# ""OMIM: Entry 239500"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=239500 # ""Metagene: id_d=219"":http://www.metagene.de/program/d.prg?id_d=219 # Afenjar A, Moutard ML, Doummar D, Guet A, Rabier D, Vermersch AI, Mignot C, Burglen L, Heron D, Thioulouse E, de Villemeur TB, Campion D, Rodriguez D: Early neurological phenotype in 4 children with biallelic PRODH mutations. Brain Dev. 2007 Oct;29(9):547-52. Epub 2007 Apr 6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/17412540 # Campbell HD, Webb GC, Young IG: A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia. Hum Genet. 1997 Nov;101(1):69-74. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9385373 # Goodman BK, Rutberg J, Lin WW, Pulver AE, Thomas GH: Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome. J Inherit Metab Dis. 2000 Dec;23(8):847-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11196113" SMP00362,"Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency)","# ""OMIM: Entry 612718"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612718 # ""Metagene: mp=L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY"":http://www.metagene.de/program/d.prg?mp=L-ARGININE:GLYCINE%20AMIDINOTRANSFERASE%20DEFICIENCY # Battini R, Alessandri MG, Leuzzi V, Moro F, Tosetti M, Bianchi MC, Cioni G: Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. J Pediatr. 2006 Jun;148(6):828-30. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/16769397 # Item CB, Stockler-Ipsiroglu S, Stromberger C, Muhl A, Alessandri MG, Bianchi MC, Tosetti M, Fornai F, Cioni G: Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet. 2001 Nov;69(5):1127-33. Epub 2001 Sep 10. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11555793 # Schulze A: Creatine deficiency syndromes. Mol Cell Biochem. 2003 Feb;244(1-2):143-50. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12701824" SMP00363,"Ornithine Aminotransferase Deficiency (OAT Deficiency)","# ""OMIM: Entry 258870"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258870 # Akaki Y, Hotta Y, Mashima Y, Murakami A, Kennaway NG, Weleber RG, Inana G: A deletion in the ornithine aminotransferase gene in gyrate atrophy. J Biol Chem. 1992 Jun 25;267(18):12950-4. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1618792 # Brody LC, Mitchell GA, Obie C, Michaud J, Steel G, Fontaine G, Robert MF, Sipila I, Kaiser-Kupfer M, Valle D: Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. J Biol Chem. 1992 Feb 15;267(5):3302-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1737786 # Hotta Y, Kennaway NG, Weleber RG, Inana G: Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina. Am J Hum Genet. 1989 Mar;44(3):353-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/2916581" SMP00364,"Lesch-Nyhan Syndrome (LNS)","# ""OMIM: Entry 300322"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300322Jinnah, H. A.; Friedmann, T. : Lesch-Nyhan disease and its variants.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic & Molecular Bases of Inherited Disease. Vol. II. 8th ed. New York: McGraw-Hill 2001. P. 2537. # Bakay B, Nissinen E, Sweetman L, Francke U, Nyhan WL: Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome. Pediatr Res. 1979 Dec;13(12):1365-70. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/523196 # Ernst M, Zametkin AJ, Matochik JA, Pascualvaca D, Jons PH, Hardy K, Hankerson JG, Doudet DJ, Cohen RM: Presynaptic dopaminergic deficits in Lesch-Nyhan disease. N Engl J Med. 1996 Jun 13;334(24):1568-72. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8628337 # Lloyd KG, Hornykiewicz O, Davidson L, Shannak K, Farley I, Goldstein M, Shibuya M, Kelley WN, Fox IH: Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. N Engl J Med. 1981 Nov 5;305(19):1106-11. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6117011" SMP00365,"Gout or Kelley-Seegmiller Syndrome","# ""OMIM: Entry 300323"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300323 # Zoref-Shani E, Feinstein S, Frishberg Y, Bromberg Y, Sperling O: Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations. Biochim Biophys Acta. 2000 Feb 21;1500(2):197-203. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10657589 # Kelley WN, Rosenbloom FM, Henderson JF, Seegmiller JE: A specific enzyme defect in gout associated with overproduction of uric acid. Proc Natl Acad Sci U S A. 1967 Jun;57(6):1735-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/4291947" SMP00366,"Nebivolol Pathway","# Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. _Journal of Clinical and Basic Cardiology, 1_(1), 5-9. # DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.207-208. New York: McGraw-Hill Medical Publishing Division. # Gupta, S., and Wright, H.M. (2008). Nebivolol: a highly selective beta1-adrenergic receptor blocker that causes vasodilation by increasing nitric oxide. _Cardiovascular therapeutics, 26_(3), 189-202. ""PMID: 18786089"":http://www.ncbi.nlm.nih.gov/pubmed/18786089" SMP00367,"Carvedilol Pathway","# Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. _Journal of Clinical and Basic Cardiology, 1_(1), 5-9. # Carvedilol. (2009). [Electronic version]. e-CPS. Retrieved July 25, 2009. # DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.207-208. New York: McGraw-Hill Medical Publishing Division." SMP00368,"Labetalol Pathway","# Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. _Journal of Clinical and Basic Cardiology, 1_(1), 5-9. # DiPiro, J.T., Talbert, R.L., Yee, G.C., Matzke, G.R., Wells, B.G, & Posey, M.L. (2005). _Pharmacotherapy: A pathologic approach._ (6 ^th^ ed) pp.207-208. New York: McGraw-Hill Medical Publishing Division. # Trandate. (2009). [Electronic version]. e-CPS. Retrieved July 25, 2009." SMP00369,"Tyrosinemia Type 2 (or Richner-Hanhart syndrome)","# ""Uniprot: P17735"":http://www.uniprot.org/uniprot/P17735 # ""Wikipedia: Tyrosinemia type II"":http://en.wikipedia.org/wiki/Tyrosinemia_type_II # ""eMedicine: Article 949816-overview"":http://emedicine.medscape.com/article/949816-overview # ""Gene Reviews"":http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tyrosinemia # ""OMIM: Entry 276600"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276600 # Bienfang DC, Kuwabara T, Pueschel SM: The Richner-Hanhart syndrome: report of a case with associated tyrosinemia. Arch Ophthalmol. 1976 Jul;94(7):1133-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/180943 # Chitayat D, Balbul A, Hani V, Mamer OA, Clow C, Scriver CR: Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus. J Inherit Metab Dis. 1992;15(2):198-203. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1356171 # Hunziker N: Richner-Hanhart syndrome and tyrosinemia type II. Dermatologica. 1980;160(3):180-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6446465" SMP00370,"Tyrosinemia Type 3 (TYRO3)","# ""Uniprot: P32754"":http://www.uniprot.org/uniprot/P32754 # ""OMIM"":http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tyrosinemia # Cerone R, Holme E, Schiaffino MC, Caruso U, Maritano L, Romano C: Tyrosinemia type III: diagnosis and ten-year follow-up. Acta Paediatr. 1997 Sep;86(9):1013-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9343288 # Ellaway CJ, Holme E, Standing S, Preece MA, Green A, Ploechl E, Ugarte M, Trefz FK, Leonard JV: Outcome of tyrosinaemia type III. J Inherit Metab Dis. 2001 Dec;24(8):824-32. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11916315 # Endo F, Kitano A, Uehara I, Nagata N, Matsuda I, Shinka T, Kuhara T, Matsumoto I: Four-hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: a new variant form of hereditary hypertyrosinemia. Pediatr Res. 1983 Feb;17(2):92-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/6828337" SMP00371,"Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH","# ""Uniprot: P05108"":http://www.uniprot.org/uniprot/P05108 # ""Wikipedia: Lipoid congenital adrenal hyperplasia"":http://en.wikipedia.org/wiki/Lipoid_congenital_adrenal_hyperplasia # Bose HS, Sugawara T, Strauss JF 3rd, Miller WL: The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. International Congenital Lipoid Adrenal Hyperplasia Consortium. N Engl J Med. 1996 Dec 19;335(25):1870-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8948562 # Degenhart HJ, Visser HK, Boon H, O'Doherty NJ: Evidence for deficient 20 -cholesterol-hydroxylase activity in adrenal tissue of a patient with lipoid adrenal hyperplasia. Acta Endocrinol (Copenh). 1972 Nov;71(3):512-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/4678198 # Fox RR, Crary DD: Genetics and pathology of hereditary adrenal hyperplasia in the rabbit: a model for congenital lipoid adrenal hyperplasia. J Hered. 1978 Jul-Aug;69(4):251-4. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/731013 # Hauffa BP, Miller WL, Grumbach MM, Conte FA, Kaplan SL: Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years. Clin Endocrinol (Oxf). 1985 Nov;23(5):481-93. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3841304" SMP00372,"Adrenal Hyperplasia Type 5 or Congenital Adrenal Hyperplasia due to 17 Alpha-hydroxylase Deficiency","# ""Wikipedia: Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency"":http://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_17_alpha-hydroxylase_deficiency # ""Uniprot: P05093"":http://www.uniprot.org/uniprot/P05093 # ""eMedicine: Article 920532-overview"":http://emedicine.medscape.com/article/920532-overview #""OMIM"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202110 # Biglieri EG: 17 alpha-Hydroxylase deficiency: 1963-1966. J Clin Endocrinol Metab. 1997 Jan;82(1):48-50. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8989231 # Biglieri EG, Herron MA, Brust N: 17-hydroxylation deficiency in man. J Clin Invest. 1966 Dec;45(12):1946-54. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/4288776 # Geller DH, Auchus RJ, Mendonca BB, Miller WL: The genetic and functional basis of isolated 17,20-lyase deficiency. Nat Genet. 1997 Oct;17(2):201-5. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9326943 # Heremans GF, Moolenaar AJ, van Gelderen HH: Female phenotype in a male child due to 17-alpha-hydroxylase deficiency. Arch Dis Child. 1976 Sep;51(9):721-3. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/999330" SMP00373,"Adrenal Hyperplasia Type 3 or Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency","# ""Uniprot: P08686"":http://www.uniprot.org/uniprot/P08686 # ""eMedicine: Article 923876-diagnosis"":http://emedicine.medscape.com/article/923876-diagnosis # ""Wikipedia: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency"":http://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency #""OMIM"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910 # de-Araujo M, Sanches MR, Suzuki LA, Guerra G Jr, Farah SB, de-Mello MP: Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency. Braz J Med Biol Res. 1996 Jan;29(1):1-13. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8731325 # Araujo RS, Mendonca BB, Barbosa AS, Lin CJ, Marcondes JA, Billerbeck AE, Bachega TA: Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2007 Oct;92(10):4028-34. Epub 2007 Jul 31. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/17666484 # Bachega TA, Billerbeck AE, Madureira G, Marcondes JA, Longui CA, Leite MV, Arnhold IJ, Mendonca BB: Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency. J Clin Endocrinol Metab. 1998 Dec;83(12):4416-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9851787 # BONGIOVANNI AM, ROOT AW: The adrenogenital syndrome. N Engl J Med. 1963 Jun 6;268:1283-9 contd. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/13968788 # Charmandari E, Hindmarsh PC, Johnston A, Brook CG: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: alterations in cortisol pharmacokinetics at puberty. J Clin Endocrinol Metab. 2001 Jun;86(6):2701-8. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11397874" SMP00374,"Glycogen Storage Disease Type 1A (GSD1A) or Von Gierke Ddisease","# ""Uniprot: P35575"":http://www.uniprot.org/uniprot/P35575 # ""eMedicine: Article 1116574-overview"":http://emedicine.medscape.com/article/1116574-overview # ""eMedicine: Article 119318-overview"":http://emedicine.medscape.com/article/119318-overview # Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). _Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy_ (pp 52) (2nd ed). Heilbronn: SPS Verlagsgesellschaft # Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K: Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. Am J Med Genet. 2000 Mar 13;91(2):107-12. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10748407 # Bianchi L: Glycogen storage disease I and hepatocellular tumours. Eur J Pediatr. 1993;152 Suppl 1:S63-70. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8391447 # Chevalier-Porst F, Bozon D, Bonardot AM, Bruni N, Mithieux G, Mathieu M, Maire I: Mutation analysis in 24 French patients with glycogen storage disease type 1a. J Med Genet. 1996 May;33(5):358-60. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8733042" SMP00375,"Verapamil Pathway","# Covera-HS. (2009). [Electronic version]. e-CPS. Retrieved August 13, 2009. # Nattel S., & Carlsson L. (2006). Innovative approaches to anti-arrhythmic drug therapy. _Nature Reviews. Drug Discovery, 5_(12), 1034-49. ""PMID: 17139288"":http://www.ncbi.nlm.nih.gov/pubmed/17139288 # Striessnig, J. (2004). Ca ^2+^ channel blockers. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 201-207). Berlin, Germany: Springer." SMP00376,"Amlodipine Pathway","# Norvasc. (2009). [Electronic version]. e-CPS. Retrieved August 13, 2009. # Striessnig, J. (2004). Ca ^2+^ channel blockers. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 201-207). Berlin, Germany: Springer." SMP00377,"Felodipine Pathway","# Plendil. (2009). [Electronic version]. e-CPS. Retrieved August 13, 2009. # Striessnig, J. (2004). Ca ^2+^ channel blockers. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 201-207). Berlin, Germany: Springer." SMP00378,"Isradipine Pathway","# Striessnig, J. (2004). Ca ^2+^ channel blockers. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 201-207). Berlin, Germany: Springer." SMP00379,"Nifedipine Pathway","# Striessnig, J. (2004). Ca ^2+^ channel blockers. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 201-207). Berlin, Germany: Springer." SMP00380,"Nimodipine Pathway","# Nimotop tablets. (2009). [Electronic version]. e-CPS. Retrieved August 13, 2009. # Striessnig, J. (2004). Ca ^2+^ channel blockers. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 201-207). Berlin, Germany: Springer." SMP00381,"Nisoldipine Pathway","# Nisoldipine. (n.d.). In _DrugBank_. Retrieved August 13, 2009, from ""http://www.drugbank.ca"":http://www.drugbank.ca/drugs/DB00401 # Striessnig, J. (2004). Ca ^2+^ channel blockers. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 201-207). Berlin, Germany: Springer." SMP00382,"Nitrendipine Pathway","# Nitrendipine. (n.d.). In _DrugBank_. Retrieved August 13, 2009, from ""http://www.drugbank.ca"":http://www.drugbank.ca/drugs/DB01054 # Striessnig, J. (2004). Ca ^2+^ channel blockers. In S. Offermanns, & W. Rosenthal (Eds.). _Encyclopedic reference of molecular pharmacology_ (pp. 201-207). Berlin, Germany: Springer." SMP00383,"Obesity / Metabolic Syndrome","# Mittra S, Bansal VS, Bhatnagar PK. From a glucocentric to a lipocentric approach towards metabolic syndrome. Drug Discov Today. 2008 Mar;13(5-6):211-8. Epub 2008 Mar 7. ""PubMed"":http://www.ncbi.nlm.nih.gov/pubmed/18342796" SMP00384,"Methylmalonate Semialdehyde Dehydrogenase Deficiency","# ""OMIM: Entry 603178"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178 # Chambliss KL, Gray RG, Rylance G, Pollitt RJ, Gibson KM: Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2000 Jul;23(5):497-504. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10947204 # Kedishvili NY, Popov KM, Rougraff PM, Zhao Y, Crabb DW, Harris RA: CoA-dependent methylmalonate-semialdehyde dehydrogenase, a unique member of the aldehyde dehydrogenase superfamily. cDNA cloning, evolutionary relationships, and tissue distribution. J Biol Chem. 1992 Sep 25;267(27):19724-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1527093" SMP00385,Homocarnosinosis,"# ""OMIM"":http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=6616870 # Jansen EE, Gibson KM, Shigematsu Y, Jakobs C, Verhoeven NM: A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Jan 18;830(2):196-200. Epub 2005 Nov 22. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/16309980" SMP00386,Desmosterolosis,"# ""OMIM: Entry 602398"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602398 # ""Metagene: mp=DESMOSTEROLOSIS"":http://www.metagene.de/program/d.prg?mp=DESMOSTEROLOSIS # Andersson HC, Kratz L, Kelley R: Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. Am J Med Genet. 2002 Dec 15;113(4):315-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12457401 # FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, Mills K, Winter RM, Clayton PT: Clinical phenotype of desmosterolosis. Am J Med Genet. 1998 Jan 13;75(2):145-52. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9450875 # Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ: Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am J Hum Genet. 2001 Oct;69(4):685-94. Epub 2001 Aug 22. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/11519011" SMP00387,"CHILD Syndrome","# ""OMIM: Entry 308050"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308050 # ""Metagene: mp=CHILD SYNDROME"":http://www.metagene.de/program/d.prg?mp=CHILD%20SYNDROME # Grange DK, Kratz LE, Braverman NE, Kelley RI: CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase. Am J Med Genet. 2000 Feb 14;90(4):328-35. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10710233 # Happle R, Effendy I, Megahed M, Orlow SJ, Kuster W: CHILD syndrome in a boy. Am J Med Genet. 1996 Mar 15;62(2):192-4. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8882402 # Hebert AA, Esterly NB, Holbrook KA, Hall JC: The CHILD syndrome. Histologic and ultrastructural studies. Arch Dermatol. 1987 Apr;123(4):503-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3827283" SMP00388,"Chondrodysplasia Punctata II, X Linked Dominant (CDPX2)","# ""OMIM: Entry 302960"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=302960 # ""Metagene: mp=CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT"":http://www.metagene.de/program/d.prg?mp=CHONDRODYSPLASIA%20PUNCTATA,%20X-LINKED%20DOMINANT # Ausavarat S, Tanpaiboon P, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V: Two novel EBP mutations in Conradi-Hunermann-Happle syndrome. Eur J Dermatol. 2008 Jul-Aug;18(4):391-3. Epub 2008 Jun 23. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/18573709 # Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D: Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nat Genet. 1999 Jul;22(3):291-4. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/10391219 # Herman GE: Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R75-88. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/12668600 # Sutphen R, Amar MJ, Kousseff BG, Toomey KE: XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome) Am J Med Genet. 1995 Jul 3;57(3):489-92. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/7677157" SMP00389,"Smith-Lemli-Opitz Syndrome (SLOS)","# ""OMIM: Entry 270400"":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270400 # Lund E, Starck L, Venizelos N: Detection of defective 3 beta-hydroxysterol delta 7-reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 1996;19(1):59-64. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/8830178 # Belmont JW, Hawkins E, Hejtmancik JF, Greenberg F: Two cases of severe lethal Smith-Lemli-Opitz syndrome. Am J Med Genet. 1987 Jan;26(1):65-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3812579 # Chasalow FI, Blethen SL, Taysi K: Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents. Steroids. 1985 Oct-Nov;46(4-5):827-43. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/3018967 # Cherstvoy ED, Lazjuk GI, Lurie IW, Nedzved MK, Usoev SS: The pathological anatomy of the Smith-Lemli-Opitz syndrome. Clin Genet. 1975 May-Jun;7(5):382-7. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/1149307 # Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI: Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet. 1997 Jan 31;68(3):263-9. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/9024557" SMP00391,"Insulin Signalling","# Proud CG: Regulation of protein synthesis by insulin. Biochem Soc Trans. 2006 Apr;34(Pt 2):213-6. ""Pubmed"":http://www.ncbi.nlm.nih.gov/pubmed/16545079 # Krauss, G. (2003) _Biochemistry of signal transduction and regulation_ (3^rd^ ed.) Weinheim ; New York : Wiley-VCH" SMP00392,"Benzocaine Pathway","# Harmatz, A. (2009). Local anesthetics: uses and toxicities. _Surgical Clinics of North America, 89_(3), 587-598. ""PMID: 19465198"":http://www.ncbi.nlm.nih.gov/pubmed/19465198 # Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. _Dermatologic Surgery, 22_(6), 511-522. ""PMID: 8646465"":http://www.ncbi.nlm.nih.gov/pubmed/8646465" SMP00393,"Bupivacaine Pathway","# Harmatz, A. (2009). Local anesthetics: uses and toxicities. _Surgical Clinics of North America, 89_(3), 587-598. ""PMID: 19465198"":http://www.ncbi.nlm.nih.gov/pubmed/19465198 # Marcaine. (2009). [Electronic version]. e-CPS. Retrieved August 19, 2009.Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. _Dermatologic Surgery, 22_(6), 511-522. ""PMID: 8646465"":http://www.ncbi.nlm.nih.gov/pubmed/8646465 # Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. _Dermatologic Surgery, 22_(6), 511-522. ""PMID: 8646465"":http://www.ncbi.nlm.nih.gov/pubmed/8646465" SMP00394,"Chloroprocaine Pathway","# Harmatz, A. (2009). Local anesthetics: uses and toxicities. _Surgical Clinics of North America, 89_(3), 587-598. ""PMID: 19465198"":http://www.ncbi.nlm.nih.gov/pubmed/19465198 # Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. _Dermatologic Surgery, 22_(6), 511-522. ""PMID: 8646465"":http://www.ncbi.nlm.nih.gov/pubmed/8646465" SMP00395,"Cocaine Pathway","# Harmatz, A. (2009). Local anesthetics: uses and toxicities. _Surgical Clinics of North America, 89_(3), 587-598. ""PMID: 19465198"":http://www.ncbi.nlm.nih.gov/pubmed/19465198 # Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. _Dermatologic Surgery, 22_(6), 511-522. ""PMID: 8646465"":http://www.ncbi.nlm.nih.gov/pubmed/8646465" SMP00396,"Dibucaine Pathway","# Harmatz, A. (2009). Local anesthetics: uses and toxicities. _Surgical Clinics of North America, 89_(3), 587-598. ""PMID: 19465198"":http://www.ncbi.nlm.nih.gov/pubmed/19465198 # Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. _Dermatologic Surgery, 22_(6), 511-522. ""PMID: 8646465"":http://www.ncbi.nlm.nih.gov/pubmed/8646465" SMP00397,"Levobupivacaine Pathway","# Harmatz, A. (2009). Local anesthetics: uses and toxicities. _Surgical Clinics of North America, 89_(3), 587-598. ""PMID: 19465198"":http://www.ncbi.nlm.nih.gov/pubmed/19465198 # Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. _Dermatologic Surgery, 22_(6), 511-522. ""PMID: 8646465"":http://www.ncbi.nlm.nih.gov/pubmed/8646465" SMP00398,"Lidocaine (Local Anaesthetic) Pathway","# Harmatz, A. (2009). Local anesthetics: uses and toxicities. _Surgical Clinics of North America, 89_(3), 587-598. ""PMID: 19465198"":http://www.ncbi.nlm.nih.gov/pubmed/19465198 # Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. _Dermatologic Surgery, 22_(6), 511-522. ""PMID: 8646465"":http://www.ncbi.nlm.nih.gov/pubmed/8646465 # Xylocaine Ointment. (2009). [Electronic version]. e-CPS. Retrieved August 19, 2009." SMP00399,"Mepivacaine Pathway","Harmatz, A. (2009). Local anesthetics: uses and toxicities. _Surgical Clinics of North America, 89_(3), 587-598. ""PMID: 19465198"":http://www.ncbi.nlm.nih.gov/pubmed/19465198 Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. _Dermatologic Surgery, 22_(6), 511-522. ""PMID: 8646465"":http://www.ncbi.nlm.nih.gov/pubmed/8646465" SMP00400,"Oxybuprocaine Pathway","# Harmatz, A. (2009). Local anesthetics: uses and toxicities. _Surgical Clinics of North America, 89_(3), 587-598. ""PMID: 19465198"":http://www.ncbi.nlm.nih.gov/pubmed/19465198 # Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. _Dermatologic Surgery, 22_(6), 511-522. ""PMID: 8646465"":http://www.ncbi.nlm.nih.gov/pubmed/8646465" SMP00401,"Prilocaine Pathway","# Harmatz, A. (2009). Local anesthetics: uses and toxicities. _Surgical Clinics of North America, 89_(3), 587-598. ""PMID: 19465198"":http://www.ncbi.nlm.nih.gov/pubmed/19465198 # Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. _Dermatologic Surgery, 22_(6), 511-522. ""PMID: 8646465"":http://www.ncbi.nlm.nih.gov/pubmed/8646465" SMP00402,"Procaine Pathway","# Harmatz, A. (2009). Local anesthetics: uses and toxicities. _Surgical Clinics of North America, 89_(3), 587-598. ""PMID: 19465198"":http://www.ncbi.nlm.nih.gov/pubmed/19465198 # Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. _Dermatologic Surgery, 22_(6), 511-522. ""PMID: 8646465"":http://www.ncbi.nlm.nih.gov/pubmed/8646465" SMP00403,"Proparacaine Pathway","# Harmatz, A. (2009). Local anesthetics: uses and toxicities. _Surgical Clinics of North America, 89_(3), 587-598. ""PMID: 19465198"":http://www.ncbi.nlm.nih.gov/pubmed/19465198 # Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. _Dermatologic Surgery, 22_(6), 511-522. ""PMID: 8646465"":http://www.ncbi.nlm.nih.gov/pubmed/8646465" SMP00404,"Ropivacaine Pathway","# Harmatz, A. (2009). Local anesthetics: uses and toxicities. _Surgical Clinics of North America, 89_(3), 587-598. ""PMID: 19465198"":http://www.ncbi.nlm.nih.gov/pubmed/19465198 # Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. _Dermatologic Surgery, 22_(6), 511-522. ""PMID: 8646465"":http://www.ncbi.nlm.nih.gov/pubmed/8646465" SMP00405,"Codeine Pathway","# Maurer, H.H., Sauer, C., and Theobald, D.S. (2006). Toxicokinetics of drugs of abuse: Current knowledge of the isoenzymes involved in the human metabolism of tetrahydrocannabinol, cocaine, heroin, morphine, and codeine. _Therapeutic Drug Monitoring, 28_(3), 447-453. ""PMID: 16778732"":http://www.ncbi.nlm.nih.gov/pubmed/16778732 # Opioids. (2009). [Electronic version]. e-CPS. Retrieved October 25, 2009." SMP00406,"Morphine Pathway","# Maurer, H.H., Sauer, C., and Theobald, D.S. (2006). Toxicokinetics of drugs of abuse: Current knowledge of the isoenzymes involved in the human metabolism of tetrahydrocannabinol, cocaine, heroin, morphine, and codeine. _Therapeutic Drug Monitoring, 28_(3), 447-453. ""PMID: 16778732"":http://www.ncbi.nlm.nih.gov/pubmed/16778732 # Opioids. (2009). [Electronic version]. e-CPS. Retrieved October 25, 2009." SMP00407,"Heroin Pathway","# Maurer, H.H., Sauer, C., and Theobald, D.S. (2006). Toxicokinetics of drugs of abuse: Current knowledge of the isoenzymes involved in the human metabolism of tetrahydrocannabinol, cocaine, heroin, morphine, and codeine. _Therapeutic Drug Monitoring, 28_(3), 447-453. ""PMID: 16778732"":http://www.ncbi.nlm.nih.gov/pubmed/16778732 # Opioids. (2009). [Electronic version]. e-CPS. Retrieved October 25, 2009." SMP00408,"Methadone Pathway","# Fredheim, O.M., Moksnes, K., Borchgrevink, P.C., Kaasa, S., and Dale, O. (2008). Clinical pharmacology of methadone for pain. _Acta Anaesthesiologica Scandinavica, 52_, 879-889. ""PMID: 18331375"":http://www.ncbi.nlm.nih.gov/pubmed/18331375 # Opioids. (2009). [Electronic version]. e-CPS. Retrieved October 25, 2009." SMP00409,"Oxycodone Pathway","# Opioids. (2009). [Electronic version]. e-CPS. Retrieved October 25, 2009. # Ordonez Gallego, A., Gonzalez Baron, M., and Espinosa Arranz, E. (2007). Oxycodone: A pharmacological and clinical review. _Clin Transl Oncol, 9_, 298-307. ""PMID: 17525040"":http://www.ncbi.nlm.nih.gov/pubmed/17525040" SMP00410,"Hydromorphone Pathway","# Opioids. (2009). [Electronic version]. e-CPS. Retrieved October 25, 2009. # Sarhill, N. Walsh, D., and Nelson, K/S. (2001). Hydromorphone: Pharmacology and clinical applications in cancer patients. _Support Care Cancer, 9_(2), 84-96. ""PMID: 11305075"":http://www.ncbi.nlm.nih.gov/pubmed/11305075" SMP00411,"Hydrocodone Pathway","# Opioids. (2009). [Electronic version]. e-CPS. Retrieved October 25, 2009. # Trescot, A.M., Datta, S., Lee, M., and Hansen, H. (2008). Opioid pharmacology. _Pain Physician, 11_(2 Suppl), S133-S153. ""PMID: 18443637"":http://www.ncbi.nlm.nih.gov/pubmed/18443637" SMP00412,"Oxymorphone Pathway","# Opioids. (2009). [Electronic version]. e-CPS. Retrieved October 25, 2009. # Prommer, E. (2006). Oxymorphone: A review. _Support Care Cancer, 14_(2), 109-115. ""PMID: 16317569"":http://www.ncbi.nlm.nih.gov/pubmed/16317569 # Trescot, A.M., Datta, S., Lee, M., and Hansen, H. (2008). Opioid pharmacology. _Pain Physician, 11_(2 Suppl), S133-S153. ""PMID: 18443637"":http://www.ncbi.nlm.nih.gov/pubmed/18443637" SMP00413,"Alfentanil Pathway","# Opioids. (2009). [Electronic version]. e-CPS. Retrieved October 25, 2009. # Trescot, A.M., Datta, S., Lee, M., and Hansen, H. (2008). Opioid pharmacology. _Pain Physician, 11_(2 Suppl), S133-S153. ""PMID: 18443637"":http://www.ncbi.nlm.nih.gov/pubmed/18443637" SMP00414,"Carfentanil Pathway","# Opioids. (2009). [Electronic version]. e-CPS. Retrieved October 25, 2009. # Trescot, A.M., Datta, S., Lee, M., and Hansen, H. (2008). Opioid pharmacology. _Pain Physician, 11_(2 Suppl), S133-S153. ""PMID: 18443637"":http://www.ncbi.nlm.nih.gov/pubmed/18443637" SMP00415,"Fentanyl Pathway","# Opioids. (2009). [Electronic version]. e-CPS. Retrieved October 25, 2009. # Prommer, E. (2009). The role of fentanyl in cancer-related pain. _Journal of Palliative Medicine, 12_(10), 947-954. ""PMID: 19807240"":http://www.ncbi.nlm.nih.gov/pubmed/19807240 # Trescot, A.M., Datta, S., Lee, M., and Hansen, H. (2008). Opioid pharmacology. _Pain Physician, 11_(2 Suppl), S133-S153. ""PMID: 18443637"":http://www.ncbi.nlm.nih.gov/pubmed/18443637" SMP00416,"Remifentanil Pathway","# Opioids. (2009). [Electronic version]. e-CPS. Retrieved October 25, 2009. # Trescot, A.M., Datta, S., Lee, M., and Hansen, H. (2008). Opioid pharmacology. _Pain Physician, 11_(2 Suppl), S133-S153. ""PMID: 18443637"":http://www.ncbi.nlm.nih.gov/pubmed/18443637" SMP00417,"Sufentanil Pathway","# Opioids. (2009). [Electronic version]. e-CPS. Retrieved October 25, 2009. # Trescot, A.M., Datta, S., Lee, M., and Hansen, H. (2008). Opioid pharmacology. _Pain Physician, 11_(2 Suppl), S133-S153. ""PMID: 18443637"":http://www.ncbi.nlm.nih.gov/pubmed/18443637" SMP00418,"Adefovir Dipivoxil Pathway","# Dando, T.M., and Plosker, G.L. (2003). Adefovir dipivoxil: A review of its use in chronic hepatitis B. _Drugs, 63_(20), 2215-34. ""PMID: 14498759"":http://www.ncbi.nlm.nih.gov/pubmed/14498759 # Hepsera. (2009). [Electronic version]. e-CPS. Retrieved December 16, 2009." SMP00419,"Tenofovir Pathway","# Atripla. (2009). [Electronic version]. e-CPS. Retrieved December 16, 2009. # Fung, H.B., Stone, E,A., and Piacenti, F.J. (2002). Tenofovir disoproxil fumarate: A nucleotide reverse transcriptase inhibitor for the treatment of HIV infection. _Clinical Therapeutics, 24_(10), 1515-1548. ""PMID: 12462284"":http://www.ncbi.nlm.nih.gov/pubmed/12462284 # Truvada. (2009). [Electronic version]. e-CPS. Retrieved December 16, 2009. # Viread. (2009). [Electronic version]. e-CPS. Retrieved December 16, 2009." SMP00420,"Bevacizumab Pathway","# Hicklin, D.J., and Ellis, L.M. (2005). Role of the vascular endothelial growth factor pathway in tumor growth and angiogenesis. _Journal of Clinical Oncology, 23_(5), 1011-1027. ""PMID: 15585754"":http://www.ncbi.nlm.nih.gov/pubmed/15585754 # Ranieri, G., Patruno, R., Ruggieri, e., Montemurro, S., Valerio, P, and Ribatti, D. (2006). Vascular endothelial growth factor (VEGF) as a target of bevacizumab in cancer: From biology to the clinic. _Current Medicinal Chemistry, 13_, 1845-1857. ""PMID: 16842197"":http://www.ncbi.nlm.nih.gov/pubmed/16842197" SMP00421,"Vatalanib Pathway","# Hicklin, D.J., and Ellis, L.M. (2005). Role of the vascular endothelial growth factor pathway in tumor growth and angiogenesis. _Journal of Clinical Oncology, 23_(5), 1011-1027. ""PMID: 15585754"":http://www.ncbi.nlm.nih.gov/pubmed/15585754 # Scott, E.N., Meinhardt, G., Jacques, C., Laurent, D., and Thomas, A.L. (2007). Vatalanib: The clinical development of a tyrosine kinase inhibitor of angiogenesis in solid tumours. _Expert Opinion on Investigational Drugs, 16_(3), 367-379. ""PMID: 17302531"":http://www.ncbi.nlm.nih.gov/pubmed/17302531" SMP00422,"Imipramine Pathway","# Shelton, R.C. (2004). The dual-action huypothesis: Does pharmacology matter? _The Journal of Clinical Psychiatry, 65_(Suppl 17), 5-10. ""PMID: 15600376"":http://www.ncbi.nlm.nih.gov/pubmed/15600376 # Tofranil. (2009). [Electronic version]. e-CPS. Retrieved December 23, 2009." SMP00423,"Desipramine Pathway","# Norpramin. (2009). [Electronic version]. e-CPS. Retrieved December 23, 2009. # Shelton, R.C. (2004). The dual-action huypothesis: Does pharmacology matter? _The Journal of Clinical Psychiatry, 65_(Suppl 17), 5-10. ""PMID: 15600376"":http://www.ncbi.nlm.nih.gov/pubmed/15600376" SMP00424,"Citalopram Pathway","# Celexa. (2009). [Electronic version]. e-CPS. Retrieved December 23, 2009. # Parker, N.G., and Brown, C.S. (2000). Citalopram in the treatment of depression. _Annals of Pharmacotherapy, 34_, 761-771. ""PMID: 10860138"":http://www.ncbi.nlm.nih.gov/pubmed/10860138 # Shelton, R.C. (2004). The dual-action huypothesis: Does pharmacology matter? _The Journal of Clinical Psychiatry, 65_(suppl 17), 5-10. ""PMID: 15600376"":http://www.ncbi.nlm.nih.gov/pubmed/15600376" SMP00425,"Escitalopram Pathway","# Cipralex. (2009). [Electronic version]. e-CPS. Retrieved December 23, 2009. # Shelton, R.C. (2004). The dual-action huypothesis: Does pharmacology matter? _The Journal of Clinical Psychiatry, 65_(Suppl 17), 5-10. ""PMID: 15600376"":http://www.ncbi.nlm.nih.gov/pubmed/15600376" SMP00426,"Fluoxetine Pathway","# Prozac. (2009). [Electronic version]. e-CPS. Retrieved December 23, 2009. # Shelton, R.C. (2004). The dual-action huypothesis: Does pharmacology matter? _The Journal of Clinical Psychiatry, 65_(Suppl 17), 5-10. ""PMID: 15600376"":http://www.ncbi.nlm.nih.gov/pubmed/15600376" SMP00427,"Azathioprine Pathway","# Nelson, D.L., & Cox, M.M. (2000). _Lehninger Principles of Biochemistry_ (3 ^rd^ ed.). New York, NY: Worth Publishers. # Sahasranaman, S., Howard, D., & Roy, S. (2008). Clinical pharmacology and pharmacogenetics of thiopurines. _European Journal of Clinical Pharmacology, 64_, 753–767. ""PMID: 18506437"":http://www.ncbi.nlm.nih.gov/pubmed/18506437 # Stocco, G., Cheok, M.H., Crews, K.R., Dervieux, T., French, D., Pei, D., et al.(2009). Genetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia. _Clinical Pharmacology and Therapeutics, 85_(2), 164-172. ""PMID: 18685564"":http://www.ncbi.nlm.nih.gov/pubmed/18685564" SMP00428,"Mercaptopurine Pathway","# Nelson, D.L., & Cox, M.M. (2000). _Lehninger Principles of Biochemistry_ (3 ^rd^ ed.). New York, NY: Worth Publishers. # Sahasranaman, S., Howard, D., & Roy, S. (2008). Clinical pharmacology and pharmacogenetics of thiopurines. _European Journal of Clinical Pharmacology, 64_, 753–767. ""PMID: 18506437"":http://www.ncbi.nlm.nih.gov/pubmed/18506437 # Stocco, G., Cheok, M.H., Crews, K.R., Dervieux, T., French, D., Pei, D., et al.(2009). Genetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia. _Clinical Pharmacology and Therapeutics, 85_(2), 164-172. ""PMID: 18685564"":http://www.ncbi.nlm.nih.gov/pubmed/18685564" SMP00429,"Disulfiram Pathway","# Gaval-Cruz, M., and Weinshenker, D. (2009). Mechanisms of disulfiram-induced cocaine abstinence: Antabuse and cocaine relapse. _Molecular Interventions, 9_(4), 175-187. ""PMID: 19720750"":http://www.ncbi.nlm.nih.gov/pubmed/19720750 # Kampman, K.M. (2009). New medications for the treatment of cocaine dependence. _Ann Ist Super Sanita, 45_(2), 109-115. ""PMID: 19636162"":http://www.ncbi.nlm.nih.gov/pubmed/19636162" SMP00430,"Thioguanine Pathway","# Nelson, D.L., & Cox, M.M. (2000). _Lehninger Principles of Biochemistry_ (3 ^rd^ ed.). New York, NY: Worth Publishers. # Sahasranaman, S., Howard, D., & Roy, S. (2008). Clinical pharmacology and pharmacogenetics of thiopurines. _European Journal of Clinical Pharmacology, 64_, 753–767. ""PMID: 18506437"":http://www.ncbi.nlm.nih.gov/pubmed/18506437 # Stocco, G., Cheok, M.H., Crews, K.R., Dervieux, T., French, D., Pei, D., et al.(2009). Genetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia. _Clinical Pharmacology and Therapeutics, 85_(2), 164-172. ""PMID: 18685564"":http://www.ncbi.nlm.nih.gov/pubmed/18685564" SMP00431,"Nicotine Pathway","# Mansvelder, H.D., Mertz, M., and Role, L,W. (2009). Nicotinic modulation of synaptic transmission and plasticity in cortico-limbic circuits. _Semin Cell Dev Biol, 20_(4), 432-440. ""PMID: 19560048"":http://www.ncbi.nlm.nih.gov/pubmed/19560048 # Narahashi, T., Fenster, C.P., Quick, M.W., Lester, R.A.J., Marszalec, W., Aistrup, G.L., Sattelle, D.B., Martins, B.R., and Levin, E.D. (2009). Symposium overview: Mechanism of action of nicotine on neuronal acetylcholine receptors, from molecule to behavior. _Toxicol Sci, 57_(2), 193-202. ""PMID: 11006350"":http://www.ncbi.nlm.nih.gov/pubmed/11006350" SMP00432,"Methotrexate Pathway","# Braun, J., and Rau, R. (2009. An update on methotrexate. _Curr Opin Rheumatol, 21_(3), 216-223. ""PMID: 19373092"":http://www.ncbi.nlm.nih.gov/pubmed/19373092 # Fotoohi, A.K., and Albertioni, F. (2008). Mechanisms of antifolate resistance and methotrexate efficacy in leukemia cells. _Leuk Lymphoma, 49_(3), 410-426. ""PMID: 18297517"":http://www.ncbi.nlm.nih.gov/pubmed/18297517" SMP00433,"Irinotecan Pathway","# Mathijssen, R.H., Loos, W.J., Verweij J., and Sparreboom, A. (2002). Pharmacology of topoisomerase I inhibitors irinotecan (CPT-11) and topotecan. _Curr Cancer Drug Targets, 2_(2), 103-123. ""PMID: 12188913"":http://www.ncbi.nlm.nih.gov/pubmed/12188913 # Rothenberg, M.L. (1997). Topoisomerase I inhibitors: Review and update. _Ann Oncol, 8_(9), 837-855. ""PMID: 9358934"":http://www.ncbi.nlm.nih.gov/pubmed/9358934" SMP00434,"Paclitaxel Pathway","# Gascoigne, K.E., & Taylor, S.S. (2009). How do anti-mitotic drugs kill cancer cells? _Journal of Cell Science, 122_(Pt 15), 2579-85. ""PMID: 19625502"":http://www.ncbi.nlm.nih.gov/pubmed/19625502 # Jordan, M.A., & Wilson, L. (2004). Microtubules as a target for anticancer drugs. _Nature Reviews. Cancer, 4_(4), 253-65. ""PMID: 15057285"":http://www.ncbi.nlm.nih.gov/pubmed/15057285 # McGrogana, B.T., Gilmartina, B., Carneyc, D.N., & McCann, A. (2008). Taxanes, microtubules and chemoresistant breast cancer. _Biochimica et Biophysica Acta, 1785_(2), 96-132. ""PMID: 18068131"":http://www.ncbi.nlm.nih.gov/pubmed/18068131" SMP00435,"Docetaxel Pathway","# Gascoigne, K.E., & Taylor, S.S. (2009). How do anti-mitotic drugs kill cancer cells? _Journal of Cell Science, 122_(Pt 15), 2579-85. ""PMID: 19625502"":http://www.ncbi.nlm.nih.gov/pubmed/19625502 # Jordan, M.A., & Wilson, L. (2004). Microtubules as a target for anticancer drugs. _Nature Reviews. Cancer, 4_(4), 253-65. ""PMID: 15057285"":http://www.ncbi.nlm.nih.gov/pubmed/15057285 # McGrogana, B.T., Gilmartina, B., Carneyc, D.N., & McCann, A. (2008). Taxanes, microtubules and chemoresistant breast cancer. _Biochimica et Biophysica Acta, 1785_(2), 96-132. ""PMID: 18068131"":http://www.ncbi.nlm.nih.gov/pubmed/18068131" SMP00436,"Vinblastine Pathway","# Gascoigne, K.E., & Taylor, S.S. (2009). How do anti-mitotic drugs kill cancer cells? _Journal of Cell Science, 122_(Pt 15), 2579-85. ""PMID: 19625502"":http://www.ncbi.nlm.nih.gov/pubmed/19625502 # Haldar, S., Jena, N., & Croce, C.M. (1995). Inactivation of Bcl-2 by phosphorylation. _Proc Natl Acad Sci USA, 92_(10), 4507-11. ""PMID: 7753834"":http://www.ncbi.nlm.nih.gov/pubmed/7753834 # Jordan, M.A., & Wilson, L. (2004). Microtubules as a target for anticancer drugs. _Nature Reviews. Cancer, 4_(4), 253-65. ""PMID: 15057285"":http://www.ncbi.nlm.nih.gov/pubmed/15057285 # Wang, L.G., Liu, X.M., Kreis, W., & Budman, D.R. (1999). The effect of antimicrotubule agents on signal transduction pathways of apoptosis: a review. _Cancer Chemotherapy and Pharmacology, 44_(5), 355-61. ""PMID: 10501907"":http://www.ncbi.nlm.nih.gov/pubmed/10501907" SMP00437,"Vincristine Pathway","# Gascoigne, K.E., & Taylor, S.S. (2009). How do anti-mitotic drugs kill cancer cells? _Journal of Cell Science, 122_(Pt 15), 2579-85. ""PMID: 19625502"":http://www.ncbi.nlm.nih.gov/pubmed/19625502 # Haldar, S., Jena, N., & Croce, C.M. (1995). Inactivation of Bcl-2 by phosphorylation. _Proc Natl Acad Sci USA, 92_(10), 4507-11. ""PMID: 7753834"":http://www.ncbi.nlm.nih.gov/pubmed/7753834 # Jordan, M.A., & Wilson, L. (2004). Microtubules as a target for anticancer drugs. _Nature Reviews. Cancer, 4_(4), 253-65. ""PMID: 15057285"":http://www.ncbi.nlm.nih.gov/pubmed/15057285 # Wang, L.G., Liu, X.M., Kreis, W., & Budman, D.R. (1999). The effect of antimicrotubule agents on signal transduction pathways of apoptosis: a review. _Cancer Chemotherapy and Pharmacology, 44_(5), 355-61. ""PMID: 10501907"":http://www.ncbi.nlm.nih.gov/pubmed/10501907" SMP00438,"Vindesine Pathway","# Gascoigne, K.E., & Taylor, S.S. (2009). How do anti-mitotic drugs kill cancer cells? _Journal of Cell Science, 122_(Pt 15), 2579-85. ""PMID: 19625502"":http://www.ncbi.nlm.nih.gov/pubmed/19625502 # Haldar, S., Jena, N., & Croce, C.M. (1995). Inactivation of Bcl-2 by phosphorylation. _Proc Natl Acad Sci USA, 92_(10), 4507-11. ""PMID: 7753834"":http://www.ncbi.nlm.nih.gov/pubmed/7753834 # Jordan, M.A., & Wilson, L. (2004). Microtubules as a target for anticancer drugs. _Nature Reviews. Cancer, 4_(4), 253-65. ""PMID: 15057285"":http://www.ncbi.nlm.nih.gov/pubmed/15057285 # Wang, L.G., Liu, X.M., Kreis, W., & Budman, D.R. (1999). The effect of antimicrotubule agents on signal transduction pathways of apoptosis: a review. _Cancer Chemotherapy and Pharmacology, 44_(5), 355-61. ""PMID: 10501907"":http://www.ncbi.nlm.nih.gov/pubmed/10501907" SMP00439,"Vinorelbine Pathway","# Gascoigne, K.E., & Taylor, S.S. (2009). How do anti-mitotic drugs kill cancer cells? _Journal of Cell Science, 122_(Pt 15), 2579-85. ""PMID: 19625502"":http://www.ncbi.nlm.nih.gov/pubmed/19625502 # Haldar, S., Jena, N., & Croce, C.M. (1995). Inactivation of Bcl-2 by phosphorylation. _Proc Natl Acad Sci USA, 92_(10), 4507-11. ""PMID: 7753834"":http://www.ncbi.nlm.nih.gov/pubmed/7753834 # Jordan, M.A., & Wilson, L. (2004). Microtubules as a target for anticancer drugs. _Nature Reviews. Cancer, 4_(4), 253-65. ""PMID: 15057285"":http://www.ncbi.nlm.nih.gov/pubmed/15057285 # Wang, L.G., Liu, X.M., Kreis, W., & Budman, D.R. (1999). The effect of antimicrotubule agents on signal transduction pathways of apoptosis: a review. _Cancer Chemotherapy and Pharmacology, 44_(5), 355-61. ""PMID: 10501907"":http://www.ncbi.nlm.nih.gov/pubmed/10501907" SMP00440,"Prednisone Pathway","# Barnes, P.J., and Adcock, I.M. (2009). Glucocorticoid resistance in inflammatory disease. _Lancet, 373_(9678), 1905-1917. PMID: 19482216 # Frey, BM., and Frey, F.J. (1990). Clinical pharmacokinetics of prednisone and prednisolone. _Clin Pharmacokinet, 19_(2), 126-146. PMID: 2199128 # Pujolsa, L., Mullol, J., and Picado, C. (2009). Glucocorticoid receptor in human respiratory epithelial cells. _Neuroimmunomodulation, 16_(5), 290-299. PMID: 19571590" SMP00441,"Prednisolone Pathway","# Barnes, P.J., and Adcock, I.M. (2009). Glucocorticoid resistance in inflammatory disease. _Lancet, 373_(9678), 1905-1917. PMID: 19482216 # Frey, BM., and Frey, F.J. (1990). Clinical pharmacokinetics of prednisone and prednisolone. _Clin Pharmacokinet, 19_(2), 126-146. PMID: 2199128 # Pujolsa, L., Mullol, J., and Picado, C. (2009). Glucocorticoid receptor in human respiratory epithelial cells. _Neuroimmunomodulation, 16_(5), 290-299. PMID: 19571590" SMP00442,"Etoposide Pathway","# Haim, N., Roman, J., Nemec, J., & Sinha, B.K. (1986). Peroxidative free radical formation and O-demethylation of etoposide (VP-16) and tenoposide (VM-26). _Biochem Biophys Res Commun, 135_(1), 215-220. PMID: 3006680 # Holthuis, J.J. (1988). Etoposide and teniposide: Bioanalysis, metabolism, and clincal pharmacokinetics. _Pharm Weekbl Sci, 10_(3), 101-116. PMID: 3047665 # Kizaki, H., & Onishi, Y. (1997). Topoisomerase II inhibitor-induced apoptosis in thymocytes and lymphoma cells. _Adv Enzyme Regul, 37_403-423. PMID: 9381984 # Montecucco, A., & Biamonti, G. (2007). Cellular response to etoposide treatment. _Cancer Lett, 252_(1), 9-18. PMID: 17166655" SMP00443,"Teniposide Pathway","# Haim, N., Roman, J., Nemec, J., & Sinha, B.K. (1986). Peroxidative free radical formation and O-demethylation of etoposide (VP-16) and tenoposide (VM-26). _Biochem Biophys Res Commun, 135_(1), 215-220. PMID: 3006680 # Holthuis, J.J. (1988). Etoposide and teniposide: Bioanalysis, metabolism, and clincal pharmacokinetics. _Pharm Weekbl Sci, 10_(3), 101-116. PMID: 3047665 # Kizaki, H., & Onishi, Y. (1997). Topoisomerase II inhibitor-induced apoptosis in thymocytes and lymphoma cells. _Adv Enzyme Regul, 37_403-423. PMID: 9381984" SMP00446,"Gemcitabine Pathway","# Plunkett, W., Huang, P., Searcy, C.E., and Gandhi, V. (1996). Gemcitabine: preclinical pharmacology and mechanisms of action. _Semin Oncol, 23_(5 Suppl 10), 3-15. PMID: 8893876 # Wong, A., Soo, R.A., Yong, W.P., and Innocenti, F. (2009). Clinical pharmacology and pharmacogenetics of gemcitabine. _Drug Metab Rev, 41_(2), 77-88. PMID: 19514966" SMP00447,"Cyclophosphamide Pathway","# Fleming, R.A. (1997). An overview of cyclophosphamide and ifosfamide pharmacology. _Pharmacotherapy, 17_(5 Pt.2), 146S-154S. PMID: 9322882 # Perini, P., Calabrese, M., Rinaldi, L., and Gallo, P. (2008). Cyclophosphamide-based combination therapies for autoimmunity. _Neurol Sci, 29_, S233-234. PMID: 18690502 # Zhang, J., Tian, Q., and Zhou, S.F. (2004). Clinical pharmacology of cyclophosphamide and ifosfamide. _Curr Drug Therapy, 1_, 55-84." SMP00448,"Ifosfamide Pathway","# Fleming, R.A. (1997). An overview of cyclophosphamide and ifosfamide pharmacology. _Pharmacotherapy, 17_(5 Pt.2), 146S-154S. PMID: 9322882 # Zhang, J., Tian, Q., and Zhou, S.F. (2004). Clinical pharmacology of cyclophosphamide and ifosfamide. _Curr Drug Therapy, 1_, 55-84." SMP00449,"Ethanol Degradation","Best C.A., Laposata M. (2003). Fatty acid ethyl esters: toxic non-oxidative metabolites of ethanol and markers of ethanol intake. _Frontiers in Bioscience, 8,_ e202-17. ""PMID: 12456329"":http://www.ncbi.nlm.nih.gov/pubmed/12456329?dopt=Abstract Salway, J.G. (2004) _Metabolism at a glance_ (3rd ed.). Alden, Mass. : Blackwell Pub. Waluga M., Hartleb M. (2003). [Alcoholic liver disease]. _Wiadomosci Lekarskie 56_(1-2), 61-70. ""PMID: 12901271"":http://www.ncbi.nlm.nih.gov/pubmed/12901271?dopt=Abstract Yamashita H., Kaneyuki T., Tagawa K. (2001). Production of acetate in the liver and its utilization in peripheral tissues. _Biochimica et Biophysica Acta, 1532_(1-2), 79-87. ""PMID: 11420176"":http://www.ncbi.nlm.nih.gov/pubmed/11420176?dopt=Abstract" SMP00452,"2-Oxobutanoate Degradation","Bobik T.A., Rasche M.E. (2001). Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements. Implications for decoding the human genome. _The Journal of Biological Chemistry 276_(40), 37194-8. ""PMID: 11481338"":http://www.ncbi.nlm.nih.gov/pubmed/11481338?dopt=Abstract de Kok A., Hengeveld A.F., Martin A., Westphal A.H. (1998). The pyruvate dehydrogenase multi-enzyme complex from Gram-negative bacteria. _Biochimica et Biophysica Acta 1385_(2), 353-66. ""PMID: 9655933"":http://www.ncbi.nlm.nih.gov/pubmed/9655933?dopt=Abstract Fries M., Jung H.I., Perham R.N. (2003). Reaction mechanism of the heterotetrameric (alpha2beta2) E1 component of 2-oxo acid dehydrogenase multienzyme complexes. _Biochemistry 42_(23), 6996-7002. ""PMID: 12795594"":http://www.ncbi.nlm.nih.gov/pubmed/12795594?dopt=Abstract Jansen R., Kalousek F., Fenton W.A., Rosenberg L.E., Ledley F.D. (1989). Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction. _Genomics 4_(2), 198-205. ""PMID: 2567699"":http://www.ncbi.nlm.nih.gov/pubmed/2567699?dopt=Abstract Paxton R., Scislowski P.W., Davis E.J., Harris R.A. (1986). Role of branched-chain 2-oxo acid dehydrogenase and pyruvate dehydrogenase in 2-oxobutyrate metabolism. _The Biochemical Journal 234_(2), 295-303. ""PMID: 3718468"":http://www.ncbi.nlm.nih.gov/pubmed/3718468?dopt=Abstract Zhou Z.H., McCarthy D.B., O'Connor C.M., Reed L.J., Stoops J.K. (2001). The remarkable structural and functional organization of the eukaryotic pyruvate dehydrogenase complexes. _Proceedings of the National Academy of Sciences of the United States of America 98_(26), 14802-7. ""PMID: 11752427"":http://www.ncbi.nlm.nih.gov/pubmed/11752427?dopt=Abstract" SMP00453,"Nateglinide Pathway","# Dornhorst, A. (2001). Insulinotropic meglitinide analogues. _Lancet, 358_(9294), 1709-1716. PMID: 11728565 # Mizuno, C.S., Chittiboyina, A.G., Kurtz, T.W., Pershadsingh, H.A, and Avery, M.A. (2008). Type 2 diabetes and oral antihyperglycemic drugs. _Curr Med Chem, 15_(1), 61-74. PMID: 18220763" SMP00454,"Repaglinide Pathway","# Dornhorst, A. (2001). Insulinotropic meglitinide analogues. _Lancet, 358_(9294), 1709-1716. PMID: 11728565 # Mizuno, C.S., Chittiboyina, A.G., Kurtz, T.W., Pershadsingh, H.A, and Avery, M.A. (2008). Type 2 diabetes and oral antihyperglycemic drugs. _Curr Med Chem, 15_(1), 61-74. PMID: 18220763" SMP00455,"Homocysteine Degradation","Finkelstein J.D. (1990). Methionine metabolism in mammals. _Journal of Nutritional Biochemistry 1_(5), 228-37. ""PMID: 15539209"":http://www.ncbi.nlm.nih.gov/pubmed/15539209?dopt=Abstract Griffith O.W. (1987). Mammalian sulfur amino acid metabolism: an overview. _Methods in Enzymology 143_, 366-76. ""PMID: 3309559"":http://www.ncbi.nlm.nih.gov/pubmed/3309559?dopt=Abstract Stipanuk M.H. (2004). Sulfur amino acid metabolism: pathways for production and removal of homocysteine and cysteine. _Annual Review of Nutrition 24_, 539-77. ""PMID: 15189131"":http://www.ncbi.nlm.nih.gov/pubmed/15189131?dopt=Abstract" SMP00456,"Fatty Acid Biosynthesis","# Lehninger, A.L. (2005) _Lehninger principles of biochemistry_ (4 ^th^ ed.). New York: W.H Freeman. # Vance, D.E., and Vance, J.E. (2008) _Biochemistry of lipids, lipoproteins, and membranes_ (5 ^th^ ed.) Amsterdam ; Boston : Elsevier. # Smith, S., Witkowski, A.,and Joshi, A. K. (2003) _Structural and functional organization of the animal fatty acid synthase._ Progress in Lipid Research (42) p289-317" SMP00460,"Glibenclamide Pathway","# Mizuno, C.S., Chittiboyina, A.G., Kurtz, T.W., Pershadsingh, H.A, and Avery, M.A. (2008). Type 2 diabetes and oral antihyperglycemic drugs. _Curr Med Chem, 15_(1), 61-74. PMID: 18220763" SMP00461,"Gliclazide Pathway","# Mizuno, C.S., Chittiboyina, A.G., Kurtz, T.W., Pershadsingh, H.A, and Avery, M.A. (2008). Type 2 diabetes and oral antihyperglycemic drugs. _Curr Med Chem, 15_(1), 61-74. PMID: 18220763" SMP00462,"Inositol Phosphate Metabolism","Abel K., Anderson R.A., & Shears S.B. (2001). Phosphatidylinositol and inositol phosphate metabolism. _Journal of Cell Science, 114_(Pt 12), 2207-8. ""PMID: 11493657"":http://www.ncbi.nlm.nih.gov/pubmed/11493657 Xia H.J. & Yang G. (2005). Inositol 1,4,5-trisphosphate 3-kinases: functions and regulations. _Cell Research, 15_(2), 83-91. ""PMID: 15740635"":http://www.ncbi.nlm.nih.gov/pubmed/15740635" SMP00463,"Phosphatidylinositol Phosphate Metabolism","Abel K., Anderson R.A., & Shears S.B. (2001). Phosphatidylinositol and inositol phosphate metabolism. _Journal of Cell Science, 114_(Pt 12), 2207-8. ""PMID: 11493657"":http://www.ncbi.nlm.nih.gov/pubmed/11493657 Anderson R.A., Boronenkov I.V., Doughman S.D., Kunz J., Loijens J.C. (1999). Phosphatidylinositol phosphate kinases, a multifaceted family of signaling enzymes. _Journal of Biological Chemistry, 274_(15), 9907-10. ""PMID: 10187762"":http://www.ncbi.nlm.nih.gov/pubmed/10187762 De Matteis M.A., Di Campli A., & Godi A. (2005). The role of the phosphoinositides at the Golgi complex. _Biochimica et Biophysica Acta, 1744_(3), 396-405. ""PMID: 15979509"":http://www.ncbi.nlm.nih.gov/pubmed/15979509 Giudici M.L., Hinchliffe K.A., & Irvine R.F. (2004). Phosphatidylinositol phosphate kinases. _Journal of Endocrinological Investigation, 27_(6 Suppl), 137-42. ""PMID: 15481814"":http://www.ncbi.nlm.nih.gov/pubmed/15481814 Kanaho Y., & Suzuki T. (2002). Phosphoinositide kinases as enzymes that produce versatile signaling lipids, phosphoinositides. _Journal of Biochemistry, 131_(4), 503-9. ""PMID: 11926986"":http://www.ncbi.nlm.nih.gov/pubmed/11926986 Poccia D., & Larijani B. (2009). Phosphatidylinositol metabolism and membrane fusion. _The Biochemical Journal, 418_(2), 233-46. ""PMID: 19196244"":http://www.ncbi.nlm.nih.gov/pubmed/19196244 Sasaki T., Takasuga S., Sasaki J., Kofuji S., Eguchi S., Yamazaki M., &Suzuki A. (2009). Mammalian phosphoinositide kinases and phosphatases. _Progress in Lipid Ressearch, 48_(6), 307-43. ""PMID: 19580826"":http://www.ncbi.nlm.nih.gov/pubmed/19580826 Vanhaesebroeck B., Leevers S. J., Ahmadi K., Timms J., Katso R., Driscoll P. C., Woscholski, R., Parker P. J. & Waterfield M. D. (2001). Synthesis and function of 3-phosphorylated inositol lipids. _Annual Review of Biochemistry, 70_, 535–602. ""PMID: 11395417"":http://www.ncbi.nlm.nih.gov/pubmed/11395417" SMP00464,"Vitamin K Metabolism","Greer F.R. (2010). Vitamin K the basics-What's new? Early Human Devevlopment, [Epub ahead of print]. ""PMID: 20116943"":http://www.ncbi.nlm.nih.gov/pubmed/20116943 Litwack G. ed. (2008). Vitamins and Hormones: Vitamin K, vol. 78. New York: Academic Press, Elsevier. Stafford, D.W. (2005). _The vitamin K cycle. Journal of Thrombosis and Haemostasis, 3_(8), 1873-8. ""PMID: 16102054"":http://www.ncbi.nlm.nih.gov/pubmed/16102054" SMP00465,"Carnitine Synthesis","Kerner J., Hoppel C. (1998). Genetic disorders of carnitine metabolism and their nutritional management. _Annual Review of Nutrition, 18_, 179-206. ""PMID: 9706223"":http://www.ncbi.nlm.nih.gov/pubmed/9706223 Rebouche C.J. (1991). Ascorbic acid and carnitine biosynthesis. _American Journal of Clinical Nutrition, 54_(6 Suppl), 147S-1152S. ""PMID: 1962562"":http://www.ncbi.nlm.nih.gov/pubmed/1962562" SMP00469,"Capecitabine Pathway","# Aprile, G., Mazzer, M., Moroso, S., and Puglisi, F. (2009). Pharmacology and therapeutic efficacy of capecitabine: focus on breast and colorectal cancer. _Anticancer Drugs, 20_(4), 217-229. PMID: 19247178. # Walko, C.M., and Lindley, C. (2005). Capecitabine: a review. _Clin Ther, 27_(1), 23-44. PMID: 15763604" SMP00470,"Fluorouracil Pathway","# Longley, D.B, Harkin, D.P., and Johnston, P.G. (2003). 5-Fluorouracil: mechanism of action and clinical strategies. _Nat Rev Cancer, 3_(5), 330-338. PMID: 12724731 # Parker, W.B., and Cheng, Y.C. (1990). Metabolism and mechanism of action of 5-fluorouracil. _Pharmacol Ther, 48_(3), 381-395. PMID: 1707544" SMP00471,"Tamoxifen Pathway","# Brauch, H., Murdter, T.E., Eichelbaum, M., and Schwab, M. (2009). Pharmacogenomics of tamoxifen therapy. _Clin Chem, 55_(10), 1770-1782. PMID: 19574470 # Hoskins, J.M., Carey, L.A., and McLeod, H.L. (2009). CYP2D6 and tamoxifen: DNA matters in breast cancer. _Nat Rev Cancer, 9_(8), 576-586. PMID: 19629072"