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Journal Abstract Search

1189 related items for PubMed ID: 16183315

  • 1. Plasma biopterin levels and tetrahydrobiopterin responsiveness.
    Shintaku H, Fujioka H, Sawada Y, Asada M, Yamano T.
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S104-6. PubMed ID: 16183315
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  • 2. Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia.
    Feillet F, Chery C, Namour F, Kimmoun A, Favre E, Lorentz E, Battaglia-Hsu SF, Guéant JL.
    Early Hum Dev; 2008 Sep; 84(9):561-7. PubMed ID: 18321666
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  • 5. Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study.
    Fiege B, Bonafé L, Ballhausen D, Baumgartner M, Thöny B, Meili D, Fiori L, Giovannini M, Blau N.
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S91-5. PubMed ID: 16290003
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  • 6. Response of patients with phenylketonuria in the US to tetrahydrobiopterin.
    Matalon R, Michals-Matalon K, Koch R, Grady J, Tyring S, Stevens RC.
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S17-21. PubMed ID: 16143554
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  • 8. In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
    Okano Y, Hase Y, Kawajiri M, Nishi Y, Inui K, Sakai N, Tanaka Y, Takatori K, Kajiwara M, Yamano T.
    Pediatr Res; 2004 Nov; 56(5):714-9. PubMed ID: 15319459
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  • 9. Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria.
    Fiege B, Blau N.
    J Pediatr; 2007 Jun; 150(6):627-30. PubMed ID: 17517248
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  • 10. Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria.
    Trefz FK, Blau N.
    Pediatrics; 2003 Dec; 112(6 Pt 2):1566-9. PubMed ID: 14654666
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  • 14. Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia.
    Thöny B, Ding Z, Martínez A.
    FEBS Lett; 2004 Nov 19; 577(3):507-11. PubMed ID: 15556637
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  • 15. Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype.
    Desviat LR, Pérez B, Bèlanger-Quintana A, Castro M, Aguado C, Sánchez A, García MJ, Martínez-Pardo M, Ugarte M.
    Mol Genet Metab; 2004 Nov 19; 83(1-2):157-62. PubMed ID: 15464430
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  • 16. BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor.
    Aguado C, Pérez B, García MJ, Bélanger-Quintana A, Martínez-Pardo M, Ugarte M, Desviat LR.
    Clin Chim Acta; 2007 May 01; 380(1-2):8-12. PubMed ID: 17408607
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  • 19. Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.
    Lindner M, Haas D, Mayatepek E, Zschocke J, Burgard P.
    Mol Genet Metab; 2001 May 01; 73(1):104-6. PubMed ID: 11350190
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  • 20. Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience.
    Mitchell JJ, Wilcken B, Alexander I, Ellaway C, O'Grady H, Wiley V, Earl J, Christodoulou J.
    Mol Genet Metab; 2005 Dec 01; 86 Suppl 1():S81-5. PubMed ID: 16091307
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