Data Sources

1. OMIM: Entry 264300
2. Uniprot: P37058
3. 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
4. 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
5. 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
6. 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

1. Metagene: id_d=256
2. Metagene: id_d=281
3. 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.

1. Uniprot: Q99714
2. OMIM: Entry 300438
3. Wikipedia: 2-Methylbutyryl-CoA dehydrogenase deficiency

1. Wikipedia: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
2. Uniprot: P35914
3. OMIM: Entry 246450
4. 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
5. 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
6. 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
7. 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

1. Baumgartner, MR: Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. J Inherit Metab Dis. 2005;28(3):301-9. Pubmed
2. 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

1. OMIM: Entry 250950
2. Uniprot: Q13825
3. Wikipedia: 3-Methylglutaconic aciduria type 1
4. 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
5. 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
6. 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
7. 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
8. 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

1. Uniprot: Q9H6K4
2. OMIM: Entry 258501
3. Wikipedia: 3-Methylglutaconic aciduria type 3
4. 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
5. 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
6. 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
7. 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

1. Wikipedia: 3-Methylglutaconic aciduria type 4
2. OMIM: Entry 250951
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
4. 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

1. OMIM: Entry 271980
2. Uniprot: P51649
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 118) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
4. 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
5. 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
6. 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
7. 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

1. Wikipedia: 5-oxoprolinuria
2. Uniprot: P48637
3. OMIM: Entry 266130
4. 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
5. 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
6. 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
7. 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

1. Ciccone, A., Abraha, & I. Santilli, I. (2006). Glycoprotein IIb-IIIa inhibitors for acute ischaemic stroke. Cochrane Database Syst Rev, 18(4), CD005208. PMID: 17054247
2. 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

1. Apo-acebutolol. (2009). [Electronic version]. e-CPS. Retrieved July 25, 2009.
2. Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. Journal of Clinical and Basic Cardiology, 1(1), 5-9.
3. 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.

1. 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
2. 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

1. Aspirin. (2009). [Electronic version]. e-CPS. Retrieved August 15, 2009.
2. Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 279-283). Berlin, Germany: Springer.
3. 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.
4. 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.
5. Offermanns, S. (2004). Antiplatelet drugs. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 106-109). Berlin, Germany: Springer.

1. Uniprot: P08397
2. OMIM: Entry 176000
3. GOLDBERG A: Acute intermittent porphyria: a study of 50 cases. Q J Med. 1959 Apr;28(110):183-209. Pubmed
4. 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
5. Becker DM, Kramer S: The neurological manifestations of porphyria: a review. Medicine (Baltimore). 1977 Sep;56(5):411-23. Pubmed
6. 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
7. 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

1. 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
2. Hepsera. (2009). [Electronic version]. e-CPS. Retrieved December 16, 2009.

1. Uniprot: P00813
2. OMIM: Entry 102700
3. Wikipedia: Adenosine deaminase deficiency
4. 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
5. 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
6. 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
7. 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

1. 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.
2. Uniprot: P30566
3. OMIM: Entry 103050
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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

1. Uniprot: P08686
2. eMedicine: Article 923876-diagnosis
3. Wikipedia: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
   #"OMIM":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910
4. 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
5. 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
6. 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
7. BONGIOVANNI AM, ROOT AW: The adrenogenital syndrome. N Engl J Med. 1963 Jun 6;268:1283-9 contd. Pubmed
8. 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

1. Wikipedia: Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency
2. Uniprot: P05093
3. eMedicine: Article 920532-overview
   #"OMIM":http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202110
4. Biglieri EG: 17 alpha-Hydroxylase deficiency: 1963-1966. J Clin Endocrinol Metab. 1997 Jan;82(1):48-50. Pubmed
5. Biglieri EG, Herron MA, Brust N: 17-hydroxylation deficiency in man. J Clin Invest. 1966 Dec;45(12):1946-54. Pubmed
6. 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
7. 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

1. 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.
2. Uniprot: P31939
3. OMIM: Entry 608688
4. 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
5. 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

1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.

1. Reszka, A.A., & Rodan, G.A. (2003). Bisphosphonate mechanism of action. Current Rheumatology Reports, 5(1), 65-74. PMID: 12590887
2. Seibel, M.J. (2004). Bone metabolism. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 190-197). Berlin, Germany: Springer.

1. Opioids. (2009). [Electronic version]. e-CPS. Retrieved October 25, 2009.
2. Trescot, A.M., Datta, S., Lee, M., and Hansen, H. (2008). Opioid pharmacology. Pain Physician, 11(2 Suppl), S133-S153. PMID: 18443637

1. 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.
2. Uniprot: Q93099
3. OMIM: Entry 203500
4. Wikipedia: Alkaptonuria
5. 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.
6. 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
7. 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
8. 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
9. 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
10. 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
11. 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

1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.
3. Vance, D.E., and Vance, J.E. (2008) Biochemistry of lipids, lipoproteins, and membranes (5 ^th ed.) Amsterdam ; Boston : Elsevier.

1. Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. Journal of Clinical and Basic Cardiology, 1(1), 5-9.
2. 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.

1. 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
2. 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

1. Amikacin (CPhA monograph). (2009). [Electronic version]. e-CPS. Retrieved July 17, 2009.
2. 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.

1. Brater, D.C. (2000). Pharmacology of diuretics. American Journal of Medical Sciences, 319(1), 38-50. PMID: 10653443
2. Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. Drugs, 9(3), 178-226. PMID: 1092541

1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.

1. 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
2. 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

1. Norvasc. (2009). [Electronic version]. e-CPS. Retrieved August 13, 2009.
2. Striessnig, J. (2004). Ca ²⁺ channel blockers. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 201-207). Berlin, Germany: Springer.

1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.
3. Kikuchi G (1973) The glycine cleavage system: composition, reaction mechanism, and physiological significance Mol. Cell. Biochem. 1 (2): 169–87.

1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.
3. Norman, A.W, and Litwack, G. (1997) Hormones (2 ^nd ed.). San Diego : Academic Press.

1. 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
2. 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

1. 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
2. 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

1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Vance, D.E., and Vance, J.E. (2002) Biochemistry of lipids, lipoproteins, and membranes (4 ^th ed.) Amsterdam ; Boston : Elsevier.
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1. 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
2. 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

1. 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
2. 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

1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.

1. OMIM: Entry 612718
2. Metagene: mp=L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY
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5. Schulze A: Creatine deficiency syndromes. Mol Cell Biochem. 2003 Feb;244(1-2):143-50. Pubmed

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1. OMIM: Entry 207900
2. Uniprot: P04424
3. Wikipedia: Argininosuccinic aciduria
4. 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
5. 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
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2. Uniprot: P20711
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4. 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
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1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
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1. 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.
2. Uniprot: P20933
3. OMIM: Entry 208400
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6. 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
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1. Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. Journal of Clinical and Basic Cardiology, 1(1), 5-9.
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3. Stanfield, C.L., & Germann, W.J. (2008). Principles of human physiology (3 ^rd ed.). San Francisco, CA: Pearson Education, Inc.
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1. Brater, D.C. (2000). Pharmacology of diuretics. American Journal of Medical Sciences, 319(1), 38-50. PMID: 10653443
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1. Harmatz, A. (2009). Local anesthetics: uses and toxicities. Surgical Clinics of North America, 89(3), 587-598. PMID: 19465198
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1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Lodish, H., et al. (2004) Molecular cell biology. New York: W.H Freeman.
3. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.
4. Vance, D.E., and Vance, J.E. (2002) Biochemistry of lipids, lipoproteins, and membranes (4 ^th ed.) Amsterdam ; Boston : Elsevier.
5. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
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1. Wikipedia: Beta-ketothiolase deficiency
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3. Uniprot: P24752
4. 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
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1. Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. Journal of Clinical and Basic Cardiology, 1(1), 5-9.
2. 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.

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1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Lodish, H., et al. (2004) Molecular cell biology. New York: W.H Freeman.
3. Vance, D.E., and Vance, J.E. (2002) Biochemistry of lipids, lipoproteins, and membranes (4 ^th ed.) Amsterdam ; Boston : Elsevier.
4. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.

1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.

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2. 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.
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1. 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
2. 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

1. Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 279-283). Berlin, Germany: Springer.
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1. Harmatz, A. (2009). Local anesthetics: uses and toxicities. Surgical Clinics of North America, 89(3), 587-598. PMID: 19465198
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1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
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1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.

1. Uniprot: P45381
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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 33, 114) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
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3. Peters, J. (2004). ACE inhibitors. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 2-5). Berlin, Germany: Springer.
4. Stanfield, C.L., & Germann, W.J. (2008). Principles of human physiology (3 ^rd ed.). San Francisco, CA: Pearson Education, Inc.

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2. Carvedilol. (2009). [Electronic version]. e-CPS. Retrieved July 25, 2009.
3. 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.

1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.

1. Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 279-283). Berlin, Germany: Springer.
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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 34) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
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1. Reszka, A.A., & Rodan, G.A. (2003). Bisphosphonate mechanism of action. Current Rheumatology Reports, 5(1), 65-74. PMID: 12590887
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1. Gazdar A.F. (2010). Epidermal growth factor receptor inhibition in lung cancer: the evolving role of individualized therapy. Cancer Metastasis Rev, 29(1), 37-48. PMID: 20127143

1. Lurje, G., and Lenz, H.J. (2009). EGFR signaling and drug discovery. Oncology, 77(6), 400-410. PMID: 20130423

1. OMIM: Entry 308050
2. Metagene: mp=CHILD SYNDROME
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1. Harmatz, A. (2009). Local anesthetics: uses and toxicities. Surgical Clinics of North America, 89(3), 587-598. PMID: 19465198
2. Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. Dermatologic Surgery, 22(6), 511-522. PMID: 8646465

1. Brater, D.C. (2000). Pharmacology of diuretics. American Journal of Medical Sciences, 319(1), 38-50. PMID: 10653443
2. Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. Drugs, 9(3), 178-226. PMID: 1092541

1. Brater, D.C. (2000). Pharmacology of diuretics. American Journal of Medical Sciences, 319(1), 38-50. PMID: 10653443
2. Davies, D.L., & Wilson, G.M. (1975). Diuretics: mechanism of action and clinical application. Drugs, 9(3), 178-226. PMID: 1092541
3. Thiazide diuretics. (2009). [Electronic version]. e-CPS. Retrieved June 5, 2009.

1. OMIM: Entry 302960
2. Metagene: mp=CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT
3. 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
4. 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
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1. Bader, M. (2004). Renin-angiotensin-aldosterone system. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 810-814). Berlin, Germany: Springer.
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4. Stanfield, C.L., & Germann, W.J. (2008). Principles of human physiology (3 ^rd ed.). San Francisco, CA: Pearson Education, Inc.

1. 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
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1. 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
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1. Celexa. (2009). [Electronic version]. e-CPS. Retrieved December 23, 2009.
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1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
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5. 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
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1. Dalacin C. (2009). [Electronic version]. e-CPS. Retrieved July 17, 2009.
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1. Clomocycline. (n.d.). In DrugBank. Retrieved July 17, 2009, from http://www.drugbank.ca
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1. 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
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1. Harmatz, A. (2009). Local anesthetics: uses and toxicities. Surgical Clinics of North America, 89(3), 587-598. PMID: 19465198
2. Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. Dermatologic Surgery, 22(6), 511-522. PMID: 8646465

1. 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
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1. Brater, D.C. (2000). Pharmacology of diuretics. American Journal of Medical Sciences, 319(1), 38-50. PMID: 10653443
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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 37) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
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1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
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1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
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1. Norpramin. (2009). [Electronic version]. e-CPS. Retrieved December 23, 2009.
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1. OMIM: Entry 602398
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1. Harmatz, A. (2009). Local anesthetics: uses and toxicities. Surgical Clinics of North America, 89(3), 587-598. PMID: 19465198
2. Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. Dermatologic Surgery, 22(6), 511-522. PMID: 8646465

1. Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 279-283). Berlin, Germany: Springer.
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3. 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.
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4. 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.

1. Uniprot: Q14117
2. OMIM: Entry 222748
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 38) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
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1. Wikipedia: Dihydropyrimidine dehydrogenase deficiency
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1. 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
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1. 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
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1. Brater, D.C. (2000). Pharmacology of diuretics. American Journal of Medical Sciences, 319(1), 38-50. PMID: 10653443
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1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
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1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.

1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.

1. Wikipedia: Glutaric aciduria type 1
2. Uniprot: Q92947
3. OMIM: Entry 231670
4. 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
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9. Uniprot: Q9HAC7
10. 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
11. 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
12. 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

1. 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
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1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.

1. Uniprot: P48637
2. OMIM: Entry 266130
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 81) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
4. 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
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1. Uniprot: P32189
2. OMIM: Entry 307030
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 50) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
4. 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
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1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.

1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.
3. Vance, D.E., and Vance, J.E. (2002) Biochemistry of lipids, lipoproteins, and membranes (4 ^th ed.) Amsterdam ; Boston : Elsevier.

1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.

1. Uniprot: Q14749
2. OMIM: Entry 606664
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 51) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
4. 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
5. 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

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4. 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
5. 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
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1. OMIM: Entry 612736
2. Uniprot: Q14353
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 53) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
4. 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
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6. Schulze A: Creatine deficiency syndromes. Mol Cell Biochem. 2003 Feb;244(1-2):143-50. Pubmed

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1. OMIM: Entry 239500
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3. Emery FA, Goldie L, Stern J: Hyperprolinaemia type 2. J Ment Defic Res. 1968 Sep;12(3):187-95. Pubmed
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2. 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
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1. Brater, D.C. (2000). Pharmacology of diuretics. American Journal of Medical Sciences, 319(1), 38-50. PMID: 10653443
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1. Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 279-283). Berlin, Germany: Springer.
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1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.

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
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1. Proud CG: Regulation of protein synthesis by insulin. Biochem Soc Trans. 2006 Apr;34(Pt 2):213-6. Pubmed
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1. 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
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1. 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
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1. 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
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1. 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
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1. 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
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1. 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
2. Krauss, G. (2003) Biochemistry of signal transduction and regulation (3^rd ed.) Weinheim ; New York : Wiley-VCH

1. 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
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1. Uniprot: P26440
2. OMIM: Entry 243500
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 61) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
4. 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
5. Efron ML: Isovaleric acidemia. Am J Dis Child. 1967 Jan;113(1):74-6. Pubmed
6. 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
7. 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

1. Striessnig, J. (2004). Ca ²⁺ channel blockers. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 201-207). Berlin, Germany: Springer.

1. Kanamycin. (n.d.). In DrugBank. Retrieved July 17, 2009, from http://www.drugbank.ca
2. 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.

1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
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1. Apo-Keto/Apo-Keto-E/Apo-Keto SR. (2009). [Electronic version]. e-CPS. Retrieved August 15, 2009.
2. Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 279-283). Berlin, Germany: Springer.
3. 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.
4. 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.

1. Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 279-283). Berlin, Germany: Springer.
2. 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.
3. 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.
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1. Borchard, U. (1998). Pharmacological properties of beta-adrenoceptor blocking drugs. Journal of Clinical and Basic Cardiology, 1(1), 5-9.
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1. OMIM: Entry 312170
2. Uniprot: P08559
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 63) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
4. 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
5. Blass JP, Kark AP, Engel WK: Clinical studies of a patient with pyruvate decarboxylase deficiency. Arch Neurol. 1971 Nov;25(5):449-60. Pubmed
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7. 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
8. 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
9. 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
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1. 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.
2. Horn, J. (2000). The proton-pump inhibitors: Similarities and differences. Clinical Therapeutics, 22(3), 266-280. PMID: 10963283
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1. Wikipedia: Leigh%27s disease
2. OMIM: Entry 256000
3. Uniprot: P08559
4. Uniprot: P00846
5. 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
6. 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
7. David RB, Gomez MR, Okazaki H: Necrotizing encephalomyelopathy (Leigh). Dev Med Child Neurol. 1970 Aug;12(4):436-45. Pubmed
8. DiMauro S, De Vivo DC: Genetic heterogeneity in Leigh syndrome. Ann Neurol. 1996 Jul;40(1):5-7. Pubmed
9. 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

1. 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
2. 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

1. OMIM: Entry 300322, 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.
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3. 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
4. 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

1. OMIM: Entry 246530
2. Uniprot: Q16873
3. 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
4. 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
5. 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
6. 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
7. 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

1. Harmatz, A. (2009). Local anesthetics: uses and toxicities. Surgical Clinics of North America, 89(3), 587-598. PMID: 19465198
2. Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. Dermatologic Surgery, 22(6), 511-522. PMID: 8646465

1. Dhein, S. (2004). Antiarrhythmic drugs. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 49-51). Berlin, Germany: Springer.
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1. Harmatz, A. (2009). Local anesthetics: uses and toxicities. Surgical Clinics of North America, 89(3), 587-598. PMID: 19465198
2. Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. Dermatologic Surgery, 22(6), 511-522. PMID: 8646465
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1. Bader, M. (2004). Renin-angiotensin-aldosterone system. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 810-814). Berlin, Germany: Springer.
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1. Mevacor. (2009). [Electronic version]. e-CPS. Retrieved June 30, 2009.
2. Reszka, A.A., & Rodan, G.A. (2003). Bisphosphonate mechanism of action. Current Rheumatology Reports, 5(1), 65-74. PMID: 12590887
3. 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.

1. Lymecycline. (n.d.). In DrugBank. Retrieved July 17, 2009, from http://www.drugbank.ca
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1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
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1. OMIM: Entry 222700
2. 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
3. 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
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1. Uniprot: P38571
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3. 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
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5. 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
6. 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

1. Lehninger, A.L. (2005) Lehninger principles of biochemistry (4 ^th ed.). New York: W.H Freeman.
2. Salway, J.G. (2004) Metabolism at a glance (3 ^rd ed.). Alden, Mass. : Blackwell Pub.

1. Uniprot: O95822
2. OMIM: Entry 248360
3. 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.
4. 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
5. Brown GK, Scholem RD, Bankier A, Danks DM: Malonyl coenzyme A decarboxylase deficiency. J Inherit Metab Dis. 1984;7(1):21-6. Pubmed
6. 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
7. 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
8. 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

1. Uniprot: P12694
2. Uniprot: P21953
3. Uniprot: P09622
4. OMIM: Entry 248600
5. Hommes, F., Van den Berg, C. (1973). Inborn Errors of Metabolism (pp. 337). London: Academic Press.
6. 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
7. 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 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
8. 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
9. 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
10. 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
11. 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

1. Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 279-283). Berlin, Germany: Springer.
2. 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.
3. 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.

1. Botting, R., & Botting, J. (2004). Cyclooxygenases. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 279-283). Berlin, Germany: Springer.
2. 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.
3. 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.
4. Mobicox. (2009). [Electronic version]. e-CPS. Retrieved August 15, 2009.
5. Offermanns, S. (2004). Antiplatelet drugs. In S. Offermanns, & W. Rosenthal (Eds.). Encyclopedic reference of molecular pharmacology (pp. 106-109). Berlin, Germany: Springer.

Harmatz, A. (2009). Local anesthetics: uses and toxicities. Surgical Clinics of North America, 89(3), 587-598. PMID: 19465198
Skidmore, R.A., Patterson, J.D., & Tomsick R.S. (1996). Local anesthetics. Dermatologic Surgery, 22(6), 511-522. PMID: 8646465

1. Nelson, D.L., & Cox, M.M. (2000). Lehninger Principles of Biochemistry (3 ^rd ed.). New York, NY: Worth Publishers.
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1. Uniprot: P15289
2. OMIM: Entry 250100
3. 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
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5. 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
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1. 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
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1. Uniprot: Q9NZL9
2. OMIM: Entry 250850
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 69) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
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