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Journal Abstract Search

633 related items for 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 26; 347(26):2111-21. PubMed ID: 12501223
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  • 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 26; 54(6):719-28. PubMed ID: 15931605
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  • 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 Jun 26; 143(1-2):108562. PubMed ID: 39121793
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  • 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 Jun 26; 77(1-2):136-42. PubMed ID: 12359141
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  • 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 26; 54(3):323-330. PubMed ID: 28081634
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  • 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 26; 73(1):284-9. PubMed ID: 23511227
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  • 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 26; 14(1):19-24. PubMed ID: 8782815
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  • 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 Sep 26; 44(2):79-84. PubMed ID: 10083729
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  • 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 26; 133(3):324-331. PubMed ID: 34059444
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  • 14. Natural history of alkaptonuria revisited: analyses based on scoring systems.
    Ranganath LR, Cox TF.
    J Inherit Metab Dis; 2011 Dec 26; 34(6):1141-51. PubMed ID: 21748407
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  • 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 26; 8(9):762-772. PubMed ID: 32822600
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  • 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 30; 78(2):192-4. PubMed ID: 9674916
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