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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.
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: rudebeck m. 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.
Safety, Pharmacokinetics, and Efficacy of Palifermin in Children and Adolescents with Acute Leukemias Undergoing Myeloablative Therapy and Allogeneic Hematopoietic Stem Cell Transplantation: A Pediatric Blood and Marrow Transplant Consortium Trial.
Morris J, Rudebeck M, Neudorf S, Moore T, Duerst R, Shah AJ, Graham M, Aquino V, Morris C, Olsson B. Morris J, et al. Among authors: rudebeck m. Biol Blood Marrow Transplant. 2016 Jul;22(7):1247-1256. doi: 10.1016/j.bbmt.2016.02.016. Epub 2016 Mar 8. Biol Blood Marrow Transplant. 2016. PMID: 26968792 Free article. 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: rudebeck 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
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: rudebeck m. 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.
Characterization of changes in the tyrosine pathway by 24-h profiling during nitisinone treatment in alkaptonuria.
Ranganath LR, Milan AM, Hughes AT, Davison AS, Khedr M, Norman BP, Bou-Gharios G, Gallagher JA, Gornall M, Jackson R, Imrich R, Rovensky J, Rudebeck M, Olsson B. Ranganath LR, et al. Among authors: rudebeck m. Mol Genet Metab Rep. 2022 Feb 1;30:100846. doi: 10.1016/j.ymgmr.2022.100846. eCollection 2022 Mar. Mol Genet Metab Rep. 2022. PMID: 35242577 Free PMC article.
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