These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
632 related articles for article (PubMed ID: 12501223)
1. 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]
2. 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]
3. 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]
4. Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation. Introne WJ; Phornphutkul C; Bernardini I; McLaughlin K; Fitzpatrick D; Gahl WA Mol Genet Metab; 2002; 77(1-2):136-42. PubMed ID: 12359141 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone. Preston AJ; Keenan CM; Sutherland H; Wilson PJ; Wlodarski B; Taylor AM; Williams DP; Ranganath LR; Gallagher JA; Jarvis JC Ann Rheum Dis; 2014 Jan; 73(1):284-9. PubMed ID: 23511227 [TBL] [Abstract][Full Text] [Related]
7. The molecular basis of alkaptonuria. Fernández-Cañón JM; Granadino B; Beltrán-Valero de Bernabé D; Renedo M; Fernández-Ruiz E; Peñalva MA; Rodríguez de Córdoba S Nat Genet; 1996 Sep; 14(1):19-24. PubMed ID: 8782815 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Mutational analysis of the HGO gene in Finnish alkaptonuria patients. Beltrán-Valero de Bernabé D; Peterson P; Luopajärvi K; Matintalo P; Alho A; Konttinen Y; Krohn K; Rodríguez de Córdoba S; Ranki A J Med Genet; 1999 Dec; 36(12):922-3. PubMed ID: 10594001 [TBL] [Abstract][Full Text] [Related]
10. 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]
12. A metabolic cause of spinal deformity. Effelsberg NM; Hügle T; Walker UA Metabolism; 2010 Jan; 59(1):140-3. PubMed ID: 19765774 [TBL] [Abstract][Full Text] [Related]
13. Inhibition of para-Hydroxyphenylpyruvate Dioxygenase by Analogues of the Herbicide Nitisinone As a Strategy to Decrease Homogentisic Acid Levels, the Causative Agent of Alkaptonuria. Laschi M; Bernardini G; Dreassi E; Millucci L; Geminiani M; Braconi D; Marzocchi B; Botta M; Manetti F; Santucci A ChemMedChem; 2016 Apr; 11(7):674-8. PubMed ID: 26947423 [TBL] [Abstract][Full Text] [Related]
14. Natural history of alkaptonuria revisited: analyses based on scoring systems. Ranganath LR; Cox TF J Inherit Metab Dis; 2011 Dec; 34(6):1141-51. PubMed ID: 21748407 [TBL] [Abstract][Full Text] [Related]
15. 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 Mol Genet Metab; 2018 Sep; 125(1-2):127-134. PubMed ID: 30055994 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Molecular diagnosis of alkaptonuria mutation by analysis of homogentisate 1,2 dioxygenase mRNA from urine and blood. Ramos SM; Hernández M; Roces A; Larruga JM; González P; González AM; Pinto FM; Cabrera VM Am J Med Genet; 1998 Jun; 78(2):192-4. PubMed ID: 9674916 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Interference of hydroxyphenylpyruvic acid, hydroxyphenyllactic acid and tyrosine on routine serum and urine clinical chemistry assays; implications for biochemical monitoring of patients with alkaptonuria treated with nitisinone. Curtis SL; Norman BP; Milan AM; Gallagher JA; Olsson B; Ranganath LR; Roberts NB Clin Biochem; 2019 Sep; 71():24-30. PubMed ID: 31228435 [TBL] [Abstract][Full Text] [Related]