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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: milan am. 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
The consequences of valproate overdose.
Davison AS, Milan AM, Roberts NB. Davison AS, et al. Among authors: milan am. Clin Chem. 2011 Sep;57(9):1233-7. doi: 10.1373/clinchem.2010.151225. Clin Chem. 2011. PMID: 21873573 No abstract available.
Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment.
Ranganath LR, Milan AM, Hughes AT, Dutton JJ, Fitzgerald R, Briggs MC, Bygott H, Psarelli EE, Cox TF, Gallagher JA, Jarvis JC, van Kan C, Hall AK, Laan D, Olsson B, Szamosi J, Rudebeck M, Kullenberg T, Cronlund A, Svensson L, Junestrand C, Ayoob H, Timmis OG, Sireau N, Le Quan Sang KH, Genovese F, Braconi D, Santucci A, Nemethova M, Zatkova A, McCaffrey J, Christensen P, Ross G, Imrich R, Rovensky J. Ranganath LR, et al. Among authors: milan am. Ann Rheum Dis. 2016 Feb;75(2):362-7. doi: 10.1136/annrheumdis-2014-206033. Epub 2014 Dec 4. Ann Rheum Dis. 2016. PMID: 25475116 Clinical Trial.
110 results