Alcaptonuria

Bibliografía 

• Aquaron RR. Alkaptonuria in France: past experience and lessons for the future. J Inherit Metab Dis. 2011 Dec;34(6):1115-26. doi: 10.1007/ s10545-011-9392-7. 
• Aquaron R. Alkaptonuria: a very rare metabolic disorder . Indian J Biochem Biophys. 2013 Oct;50(5):339-44. 
• Zatkova A, Sedlackova T, Radvansky J, Polakova H, Nemethova M, Aquaron R, et al. Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD- Based HGD Mutation Database . JIMD Rep. 2012;4:55-65. doi: 10.1007/8904_2011_68 
• John SS, Padhan P, Mathews JV, David S. Acute anterior uveitis as the initial presentation of alkaptonuria . J Postgrad Med. 2009 Jan-Mar;55(1):35-7. 
• Ranganath LR, Cox TF. Natural history of alkaptonuria revisited: analyses based on scoring systems . J Inherit Metab Dis. 2011 Dec;34(6):1141-51. doi: 10.1007/s10545-011-9374-9. 
• 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 Oct;31(5):580-98. doi: 10.1007/s10545-008-0984-9. 
• Pettit SJ, Fisher M, Gallagher JA, Ranganath LR. Cardiovascular manifestations of Alkaptonuria . J Inherit Metab Dis. 2011 Dec;34(6):1177-81. doi: 10.1007/s10545-011-9339-z. 
• Chua SY, Chang HC. Bilateral spontaneous rupture of the quadriceps tendon as an initial presentation of alkaptonuria–a case report. Knee. 2006 Oct;13(5):408-10. 
• Logani V, Eachempati KK, Malhotra R, Bhan S. Spontaneous tendon ruptures in alkaptonuria. J Bone Joint Surg Br. 2004 Sep;86 7):1090. 
• Kerimoglu S, Onder C, Aynaci O, Malkoc CH. Hip arthroplasty for ochronosis. Saudi Med J. 2005 Nov;26(11):1812-4. Preston AJ, Keenan CM, Sutherland H, Wilson PJ, Wlodarski B, Taylor AM, et al. Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone. Ann Rheum Dis. 2014 Jan;73(1):284-9. doi: 10.1136/annrheumdis-2012-202878. 
• Artivle by David Adam. A father’s fight to help his sons — and fix clinical trials. (2019). Nature International Journal of Science. Volume 565, pages 148-15. doi: 10.1038/d41586-019-00035-x 
• Chanika Phornphutkul. M.D., et al. , Natural History of Alkaptonuria (2002). The New England Journal of Medicine. Volume 347, pages 2111-2121. doi: 10.1056/NEJMoa021736 Mistry J.B., et al. Alkaptonuria (2013). Rare Diseases. doi: 10.4161/rdis.27475 OMIM Alkaptonuria 
• Original article by Archibald Garrod. Garrod, Archibald E. The Incidence of Alkaptonuria: A Study in Chemical Individuality. (2019) Lancet, Volume II, pages 1616-1620. Orphanet Alcaptonuria Piro Ana, et al. Archibald Edward Garrod and alcaptonuria: “Inborn errors of metabolism” revisited (2010). Genetics in Medicine. Volume 12, pages 475–476. 
• Rovenský J., et al. History. In: Rovenský J., Urbánek T., Oľga B., Gallagher J. (eds) Alkaptonuria and Ochronosis. (2015). Springer, Cham. doi: https://doi.org/10.1007/978-3-319-15108-3_3