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Hum Genet [Internet]. 2005/09/01. 2005 Nov;118(1):141–51. Available from: http://www.ncbi.nlm.nih.gov/pubmed/16133188
9. Archibald E. Garrod. Alkaptonuria: a simple method for the extraction of homogentisinic acid from the urine. J Physiol,1898-1899; 23, pp 512-514.
10. Garrod AE. The Incidence of Alkaptonuria: a Study in Chemical Individuality. Lancet. 1902;160(4137):1616–20.
11. Garrod AE (Archibald E. Inborn Errors of Metabolism. First edit). London: Oxford University Press; 1909. 215 p.
12. Garrod AE. Albinism. In: Inborn Errors of Metabolism [Internet]. Second edit. London: Oxford University Press; 1923. p. 20–42. Available from: https://www.abebooks.com/servlet/BookDetailsPL?bi=11476233533&searchurl=tn%3Dgarrods%2Binborn%2Berrors%2Bmetabolism%26sortby%3D17%26an%3Dgarrod%2Barchibald&cm_sp=snippet-_-srp1-_-image1
13. Garrod AE (Archibald E. Inborn Errors of Metabolism. Pentosuria. Second edit). Press OU, editor. Oxford; 1923. 173–193 p.
14. Watts RWE, Watts RA. Alkaptonuria: a 60-yr follow-up. Rheumatology. 2006;46(2):358–9.
15. Garrod AE. Alkaptonuria: a simple method for the extraction of Homogentisinic Acid from the Urine. J Physiol. 1899/02/27. 1899;23(6):512–4.
16. Garrod AE. About Alkaptonuria. Med Chir Trans. 1902/01/01. 1902;85:69–78.
17. Garrod AE. The Lancet. The incidence of alkaptonuria: a study in chemical individuality. Nutr Rev. 1975/03/01. 1975;33(3):81–3.
18. Garrod AE. A Contribution to the Study of Alkaptonuria. Med Chir Trans. 1899;82:367–94.
19. La Du BN, Zannoni VG, Laster L, Seegmiller JE. The nature of the defect in tyrosine metabolism in alcaptonuria. J Biol Chem [Internet]. 1958/01/01. 1958 Jan;230(1):251–60. Available from: http://www.ncbi.nlm.nih.gov/pubmed/13502394
20. Pollak MR, Chou YH, Cerda JJ, Steinmann B, La Du BN, Seidman JG, et al. Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet. 1993/10/01. 1993;5(2):201–4.
21. Pierce SB, Spurrell CH, Mandell JB, Lee MK, Zeligson S, Bereman MS, et al. Garrod’s fourth inborn error of metabolism solved by the identification of mutations causing pentosuria. Proc Natl Acad Sci [Internet]. 2011;108(45):18 313–7. Available from: http://www.pnas.org/cgi/doi/10.1073/pnas.1115888108
22. Wang YM, van Eys J. The Enzymatic Defect in Essential Pentosuria. N Engl J Med [Internet]. 1970 Apr;282(16):892–6. Available from: http://www.ncbi.nlm.nih.gov/pubmed/4392213
23. Nakagawa J, Ishikura S, Asami J, Isaji T, Usami N, Hara A, et al. Molecular characterization of mammalian dicarbonyl/L-xylulose reductase and its localization in kidney. J Biol Chem [Internet]. 2002 May;277(20):17 883–91. Available from: http://www.jbc.org/lookup/doi/10.1074/jbc.M110703200
24. Dagmar Fertl PER. Albinism–an overview | ScienceDirect Topics [Internet]. 2009. Available from: https://www.sciencedirect.com/topics/agricultural-and-biological-sciences/albinism
25. Garrod AE, Hurtley WH. Concerning cystinuria. J Physiol. 1906/05/31. 1906;34(3):217–23.
26. Scriver CR. Garrod’s Croonian Lectures (1908) and the charter “Inborn Errors of Metabolism”: albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008. J Inherit Metab Dis. 2008/10/14. 2008;31(5):580–98.
27. Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, et al. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. J Med Genet [Internet]. 2005 Jan;42(1):58–68. Available from: http://www.ncbi.nlm.nih.gov/pubmed/15635077
28. Sumorok N, Goldfarb DS. Update on cystinuria. Curr Opin Nephrol Hypertens [Internet]. 2013 Jul;22(4):427–31. Available from: http://www.ncbi.nlm.nih.gov/pubmed/23666417
29. Archibald G. The lessons of rare maladies: annual oration before the medical society of london by Sir Archibald Garrod. Br Med J. 1928/05/26. 1928;1(3516):914–5.
30. Burgio GR. “Inborn errors of metabolism” and “chemical individuality”, two ideas of Sir Archibald Garrod briefly revisited 50 years after his death. Eur J Pediatr. 1986/04/01. 1986;145(1–2):2–5.
31. Garrod A. The Inborn Factors in Disease. An Essay. Oxford at the Clarendon Press; 1931.
32. Garrod A. The place of biochemistry in medicine. Br Med J. 1928/06/30. 1928;1(3521):1099–101.
33. Garrod AE. The Linacre Lecture: Glimpses of the higher medicine. Lancet. 1923;1091–6.
34. Piro A, Tagarelli A, Tagarelli G, Lagonia P, Quattrone A. Archibald Edward Garrod: the physician father of biochemistry. Metabolism. 2009 Apr;58(4):427-37. doi:10.1016/j.metabol.2008.12.001. PMID: 19317031.
35. Archibald G. The Debt of Science to Medicine. J R Soc Med. 1964;57(1):1–8.
36. Garrod AE (Archibald E, Scriver CR, Childs B). Garrod’s inborn factors in disease: including an annotated facsimile reprint of The