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Journal Abstract Search

466 related items for PubMed ID: 11350190

  • 1. 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; 73(1):104-6. PubMed ID: 11350190
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  • 5. New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
    Lagler FB, Gersting SW, Zsifkovits C, Steinbacher A, Eichinger A, Danecka MK, Staudigl M, Fingerhut R, Glossmann H, Muntau AC.
    Biochem Pharmacol; 2010 Nov 15; 80(10):1563-71. PubMed ID: 20705059
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  • 6. A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
    Dobrowolski SF, Borski K, Ellingson CC, Koch R, Levy HL, Naylor EW.
    J Hum Genet; 2009 Jun 15; 54(6):335-9. PubMed ID: 19444284
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  • 13. 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 15; 56(4):306-12. PubMed ID: 21307867
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  • 14. 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 Apr 15; 83(1-2):157-62. PubMed ID: 15464430
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  • 15. The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response.
    Staudigl M, Gersting SW, Danecka MK, Messing DD, Woidy M, Pinkas D, Kemter KF, Blau N, Muntau AC.
    Hum Mol Genet; 2011 Jul 01; 20(13):2628-41. PubMed ID: 21527427
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  • 19. 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 01; 86 Suppl 1():S91-5. PubMed ID: 16290003
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