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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.
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.
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: bygott h.
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
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Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial.
Ranganath LR, Psarelli EE, Arnoux JB, Braconi D, Briggs M, Bröijersén A, Loftus N, Bygott H, Cox TF, Davison AS, Dillon JP, Fisher M, FitzGerald R, Genovese F, Glasova H, Hall AK, Hughes AT, Hughes JH, Imrich R, Jarvis JC, Khedr M, Laan D, Le Quan Sang KH, Luangrath E, Lukáčová O, Milan AM, Mistry A, Mlynáriková V, Norman BP, Olsson B, Rhodes NP, Rovenský J, Rudebeck M, Santucci A, Shweihdi E, Scott C, Sedláková J, Sireau N, Stančík R, Szamosi J, Taylor S, van Kan C, Vinjamuri S, Vrtíková E, Webb C, West E, Záňová E, Zatkova A, Gallagher JA.
Ranganath LR, et al. Among authors: bygott h.
Lancet Diabetes Endocrinol. 2020 Sep;8(9):762-772. doi: 10.1016/S2213-8587(20)30228-X. Epub 2020 Aug 18.
Lancet Diabetes Endocrinol. 2020.
PMID: 32822600
Clinical Trial.
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Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone.
Imrich R, Sedláková J, Úlehlová M, Gornall M, Jackson R, Olsson B, Rudebeck M, Gallagher J, Lukáčová O, Mlynáriková V, Stančík R, Vrtíková E, Záňová E, Zaťková A, Arnoux JB, Rovenský J, Luangrath E, Bygott H, Khedr M, Ranganath LR.
Imrich R, et al. Among authors: bygott h.
RMD Open. 2022 Oct;8(2):e002422. doi: 10.1136/rmdopen-2022-002422.
RMD Open. 2022.
PMID: 36270742
Free PMC article.
Clinical Trial.
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Vitiligo, alkaptonuria, and nitisinone-A report of three families and review of the literature.
Ranganath L, Khedr M, Evans LA, Bygott H, Luangrath E, West E.
Ranganath L, et al. Among authors: bygott h.
JIMD Rep. 2021 Jun 14;61(1):25-33. doi: 10.1002/jmd2.12225. eCollection 2021 Sep.
JIMD Rep. 2021.
PMID: 34485014
Free PMC article.
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