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Journal Abstract Search

457 related items for PubMed ID: 17407085

  • 1. [Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation].
    Ye J, Liu XQ, Qiu WJ, Han LS, Zhou JD, Zhang YF, Gu XF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Apr; 24(2):210-2. PubMed ID: 17407085
    [Abstract] [Full Text] [Related]

  • 2. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
    Thöny B, Blau N.
    Hum Mutat; 2006 Sep; 27(9):870-8. PubMed ID: 16917893
    [Abstract] [Full Text] [Related]

  • 3. [Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China].
    Ye J, Qiu WJ, Han LS, Zhang HW, Zhou JD, Gao XL, Wang Y, Gu XF.
    Zhonghua Er Ke Za Zhi; 2008 Apr; 46(4):281-5. PubMed ID: 19099731
    [Abstract] [Full Text] [Related]

  • 4. Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China.
    Ye J, Liu X, Ma X, Zhang Y, Huang X, Chen R, Gu X.
    Chin Med J (Engl); 2002 Feb; 115(2):217-21. PubMed ID: 11940335
    [Abstract] [Full Text] [Related]

  • 5. [Diagnosis, treatment and long-term following up of 223 patients with hyperphenylalaninemia detected by neonatal screening programs].
    Ye J, Qiu WJ, Han LS, Zhang YJ, Zhou JD, Zhang YF, Wu YL, Gu XF.
    Zhonghua Yu Fang Yi Xue Za Zhi; 2007 May; 41(3):189-92. PubMed ID: 17708870
    [Abstract] [Full Text] [Related]

  • 6. [The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency].
    Ye J, Qiu WJ, Han LS, Zhou JD, Gao XL, Gu XF.
    Zhonghua Yu Fang Yi Xue Za Zhi; 2009 Feb; 43(2):128-31. PubMed ID: 19534905
    [Abstract] [Full Text] [Related]

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  • 8. [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; 24(3):310-3. PubMed ID: 17557244
    [Abstract] [Full Text] [Related]

  • 9. [Dopa-responsive dystonia: clinical, genetic, and biochemical studies].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Jan; 46(1):19-34. PubMed ID: 16541791
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 11. [Screening for 6-pyruvoyl-tetrahydrobiopterin synthase (PTPS) deficiency: clinical analysis of 9 patients with PTPS deficiency].
    Ye J, Liu X, Huang X.
    Zhonghua Yi Xue Za Zhi; 2000 Jul; 80(7):513-5. PubMed ID: 11798810
    [Abstract] [Full Text] [Related]

  • 12.
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  • 13. [Studies on neonatal screening, clinical and gene analysis for tetrahydrobiopterin deficiency in Southern Chinese].
    Ye J, Liu X, Ma X, Huang X, Zhang Y, Gu X, Chen R.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Apr; 18(2):92-5. PubMed ID: 11295124
    [Abstract] [Full Text] [Related]

  • 14. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.
    Blau N, Bonafé L, Thöny B.
    Mol Genet Metab; 2001 Apr; 74(1-2):172-85. PubMed ID: 11592814
    [Abstract] [Full Text] [Related]

  • 15. Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.
    Bonafé L, Thöny B, Leimbacher W, Kierat L, Blau N.
    Clin Chem; 2001 Mar; 47(3):477-85. PubMed ID: 11238300
    [Abstract] [Full Text] [Related]

  • 16. Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.
    Farrugia R, Scerri CA, Montalto SA, Parascandolo R, Neville BG, Felice AE.
    Mol Genet Metab; 2007 Mar; 90(3):277-83. PubMed ID: 17188538
    [Abstract] [Full Text] [Related]

  • 17.
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  • 18. Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.
    Thöny B, Blau N.
    Hum Mutat; 1997 Mar; 10(1):11-20. PubMed ID: 9222755
    [Abstract] [Full Text] [Related]

  • 19. [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].
    Dhondt JL, Hayte JM.
    Ann Biol Clin (Paris); 2002 Mar; 60(2):165-71. PubMed ID: 11937441
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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