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Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria.
Ranganath LR, Milan AM, Hughes AT, Khedr M, Davison AS, Shweihdi E, Norman BP, Hughes JH, Bygott H, Luangrath E, Fitzgerald R, Psarelli EE, van Kan C, Laan D, Olsson B, Rudebeck M, Mankowitz L, Sireau N, Arnoux JB, Le Quan Sang KH, Jarvis JC, Genovese F, Braconi D, Santucci A, Zatkova A, Glasova H, Stančík R, Imrich R, Rhodes NP, Gallagher JA. Ranganath LR, et al. Among authors: khedr m. J Inherit Metab Dis. 2020 Jul;43(4):737-747. doi: 10.1002/jimd.12181. Epub 2020 Feb 5. J Inherit Metab Dis. 2020. PMID: 31609457
Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre.
Ranganath LR, Khedr M, Milan AM, Davison AS, Hughes AT, Usher JL, Taylor S, Loftus N, Daroszewska A, West E, Jones A, Briggs M, Fisher M, McCormick M, Judd S, Vinjamuri S, Griffin R, Psarelli EE, Cox TF, Sireau N, Dillon JP, Devine JM, Hughes G, Harrold J, Barton GJ, Jarvis JC, Gallagher JA. Ranganath LR, et al. Among authors: khedr m. Mol Genet Metab. 2018 Sep;125(1-2):127-134. doi: 10.1016/j.ymgme.2018.07.011. Epub 2018 Jul 24. Mol Genet Metab. 2018. PMID: 30055994
Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone.
Griffin R, Psarelli EE, Cox TF, Khedr M, Milan AM, Davison AS, Hughes AT, Usher JL, Taylor S, Loftus N, Daroszewska A, West E, Jones A, Briggs M, Fisher M, McCormick M, Judd S, Vinjamuri S, Sireau N, Dillon JP, Devine JM, Hughes G, Harrold J, Barton GJ, Jarvis JC, Gallagher JA, Ranganath LR. Griffin R, et al. Among authors: khedr m. Data Brief. 2018 Sep 12;20:1620-1628. doi: 10.1016/j.dib.2018.09.021. eCollection 2018 Oct. Data Brief. 2018. PMID: 30263914 Free PMC article.
232 results