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Journal Abstract Search

355 related items for PubMed ID: 14681498

  • 1. Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene.
    Shintaku H, Kure S, Ohura T, Okano Y, Ohwada M, Sugiyama N, Sakura N, Yoshida I, Yoshino M, Matsubara Y, Suzuki K, Aoki K, Kitagawa T.
    Pediatr Res; 2004 Mar; 55(3):425-30. PubMed ID: 14681498
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  • 5. [Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test].
    Zhang ZX, Ye J, Qiu WJ, Han LS, Gu XF.
    Zhonghua Er Ke Za Zhi; 2005 May; 43(5):335-9. PubMed ID: 15924746
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  • 6. Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
    Okano Y, Kudo S, Nishi Y, Sakaguchi T, Aso K.
    J Hum Genet; 2011 Apr; 56(4):306-12. PubMed ID: 21307867
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  • 8. 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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  • 9. Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency.
    Nalin T, Perry ID, Sitta A, Vargas CR, Saraiva-Pereira ML, Giugliani R, Blau N, Schwartz IV.
    Mol Genet Metab; 2011 Dec; 104 Suppl():S80-5. PubMed ID: 22014474
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  • 10. Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.
    Fiori L, Fiege B, Riva E, Giovannini M.
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S67-74. PubMed ID: 16198137
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  • 11. 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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  • 12. A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.
    Steinfeld R, Kohlschütter A, Ullrich K, Lukacs Z.
    Amino Acids; 2003 Jul; 25(1):63-8. PubMed ID: 12836060
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  • 13. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
    Muntau AC, Röschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff CP, Roscher AA.
    N Engl J Med; 2002 Dec 26; 347(26):2122-32. PubMed ID: 12501224
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  • 14. Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.
    Quirk ME, Dobrowolski SF, Nelson BE, Coffee B, Singh RH.
    Mol Genet Metab; 2012 Sep 26; 107(1-2):31-6. PubMed ID: 22841515
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  • 15. Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.
    Ponzone A, Porta F, Mussa A, Alluto A, Ferraris S, Spada M.
    Metabolism; 2010 May 26; 59(5):645-52. PubMed ID: 19913839
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  • 16. Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.
    Rivera I, Mendes D, Afonso Â, Barroso M, Ramos R, Janeiro P, Oliveira A, Gaspar A, Tavares de Almeida I.
    Mol Genet Metab; 2011 May 26; 104 Suppl():S86-92. PubMed ID: 21871829
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  • 17. Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
    Dobrowolski SF, Heintz C, Miller T, Ellingson C, Ellingson C, Ozer I, Gökçay G, Baykal T, Thöny B, Demirkol M, Blau N.
    Mol Genet Metab; 2011 Feb 26; 102(2):116-21. PubMed ID: 21147011
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  • 18. 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 26; 73(1):104-6. PubMed ID: 11350190
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