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Journal Abstract Search

432 related items for PubMed ID: 15936235

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  • 2. Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.
    Pey AL, Pérez B, Desviat LR, Martínez MA, Aguado C, Erlandsen H, Gámez A, Stevens RC, Thórólfsson M, Ugarte M, Martínez A.
    Hum Mutat; 2004 Nov; 24(5):388-99. PubMed ID: 15459954
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  • 4. 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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  • 6. Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.
    Ponzone A, Porta F, Mussa A, Alluto A, Ferraris S, Spada M.
    Metabolism; 2010 May; 59(5):645-52. PubMed ID: 19913839
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  • 8. Recombinant human phenylalanine hydroxylase: novel regulatory and structural properties.
    Kowlessur D, Citron BA, Kaufman S.
    Arch Biochem Biophys; 1996 Sep 01; 333(1):85-95. PubMed ID: 8806757
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  • 9. 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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  • 13. Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells.
    Aguado C, Pérez B, Ugarte M, Desviat LR.
    FEBS Lett; 2006 Mar 20; 580(7):1697-701. PubMed ID: 16504182
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  • 15. The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model.
    Sarkissian CN, Ying M, Scherer T, Thöny B, Martinez A.
    Hum Mutat; 2012 Oct 20; 33(10):1464-73. PubMed ID: 22644647
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  • 16. 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 20; 86 Suppl 1():S91-5. PubMed ID: 16290003
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  • 17. 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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  • 18. [Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients].
    Yang L, Zhang ZX, Ye J, Zhou ZS, Shen M, Han LS, Qiu W, Yu WM, Gu XF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Jun 01; 24(3):310-3. PubMed ID: 17557244
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  • 19. Plasma biopterin levels and tetrahydrobiopterin responsiveness.
    Shintaku H, Fujioka H, Sawada Y, Asada M, Yamano T.
    Mol Genet Metab; 2005 Dec 01; 86 Suppl 1():S104-6. PubMed ID: 16183315
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