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2. Alkaptonuria - Many questions answered, further challenges beckon. Davison AS; Hughes AT; Milan AM; Sireau N; Gallagher JA; Ranganath LR Ann Clin Biochem; 2020 Mar; 57(2):106-120. PubMed ID: 31529982 [No Abstract] [Full Text] [Related]
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5. NTBC and alkaptonuria. Anikster Y; Nyhan WL; Gahl WA Am J Hum Genet; 1998 Sep; 63(3):920-1. PubMed ID: 9718357 [No Abstract] [Full Text] [Related]
6. The role of nitisinone in tyrosine pathway disorders. Lock E; Ranganath LR; Timmis O Curr Rheumatol Rep; 2014 Nov; 16(11):457. PubMed ID: 25266991 [TBL] [Abstract][Full Text] [Related]
7. Evaluating the aortic stenosis phenotype before and after the effect of homogentisic acid lowering therapy: Analysis of a large cohort of eighty-one alkaptonuria patients. Ranganath LR; Heseltine T; Khedr M; Fisher MF Mol Genet Metab; 2021 Jul; 133(3):324-331. PubMed ID: 34059444 [TBL] [Abstract][Full Text] [Related]
9. Use of nitisinone in patients with alkaptonuria. Suwannarat P; O'Brien K; Perry MB; Sebring N; Bernardini I; Kaiser-Kupfer MI; Rubin BI; Tsilou E; Gerber LH; Gahl WA Metabolism; 2005 Jun; 54(6):719-28. PubMed ID: 15931605 [TBL] [Abstract][Full Text] [Related]
10. The effect of nitisinone on homogentisic acid and tyrosine: a two-year survey of patients attending the National Alkaptonuria Centre, Liverpool. Milan AM; Hughes AT; Davison AS; Devine J; Usher J; Curtis S; Khedr M; Gallagher JA; Ranganath LR Ann Clin Biochem; 2017 May; 54(3):323-330. PubMed ID: 28081634 [TBL] [Abstract][Full Text] [Related]
11. A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria. Suzuki Y; Oda K; Yoshikawa Y; Maeda Y; Suzuki T J Hum Genet; 1999; 44(2):79-84. PubMed ID: 10083729 [TBL] [Abstract][Full Text] [Related]
12. Quantification of the flux of tyrosine pathway metabolites during nitisinone treatment of Alkaptonuria. Milan AM; Hughes AT; Davison AS; Khedr M; Rovensky J; Psarelli EE; Cox TF; Rhodes NP; Gallagher JA; Ranganath LR Sci Rep; 2019 Jul; 9(1):10024. PubMed ID: 31296884 [TBL] [Abstract][Full Text] [Related]
13. Natural history of alkaptonuria. Phornphutkul C; Introne WJ; Perry MB; Bernardini I; Murphey MD; Fitzpatrick DL; Anderson PD; Huizing M; Anikster Y; Gerber LH; Gahl WA N Engl J Med; 2002 Dec; 347(26):2111-21. PubMed ID: 12501223 [TBL] [Abstract][Full Text] [Related]
14. Osteoarticular cells tolerate short-term exposure to nitisinone-implications in alkaptonuria. Mistry JB; Jackson DJ; Bukhari M; Taylor AM Clin Rheumatol; 2016 Feb; 35(2):513-6. PubMed ID: 26024586 [TBL] [Abstract][Full Text] [Related]
15. 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 Lancet Diabetes Endocrinol; 2020 Sep; 8(9):762-772. PubMed ID: 32822600 [TBL] [Abstract][Full Text] [Related]
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17. 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 Ann Rheum Dis; 2016 Feb; 75(2):362-7. PubMed ID: 25475116 [TBL] [Abstract][Full Text] [Related]
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19. A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Introne WJ; Perry MB; Troendle J; Tsilou E; Kayser MA; Suwannarat P; O'Brien KE; Bryant J; Sachdev V; Reynolds JC; Moylan E; Bernardini I; Gahl WA Mol Genet Metab; 2011 Aug; 103(4):307-14. PubMed ID: 21620748 [TBL] [Abstract][Full Text] [Related]
20. Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial. Spears KR; Rossignol F; Perry MB; Kayser MA; Suwannarat P; O'Brien KE; Bryant JC; Greenwood WF; Fuller S; Gahl WA; Introne WJ Mol Genet Metab; 2024; 143(1-2):108562. PubMed ID: 39121793 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]