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Journal Abstract Search

147 related items for PubMed ID: 18276179

  • 1. Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.
    Horvath GA, Stockler-Ipsiroglu SG, Salvarinova-Zivkovic R, Lillquist YP, Connolly M, Hyland K, Blau N, Rupar T, Waters PJ.
    Mol Genet Metab; 2008 May; 94(1):127-31. PubMed ID: 18276179
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  • 2. Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia.
    Opladen T, Hoffmann G, Hörster F, Hinz AB, Neidhardt K, Klein C, Wolf N.
    Mov Disord; 2011 Jan; 26(1):157-61. PubMed ID: 20818608
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  • 6. Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia.
    Hirano M, Ueno S.
    Neurology; 1999 Jan 01; 52(1):182-4. PubMed ID: 9921872
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  • 7. [Dopa-responsive dystonia: clinical, genetic, and biochemical studies].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Jan 01; 46(1):19-34. PubMed ID: 16541791
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  • 9. [Autosomal-dominant DOPA-responsive dystonia, caused by mutations in the GTP-cyclohydrolase I gene].
    Nagatsu T, Ichinose H.
    Vopr Med Khim; 1998 Jan 01; 44(3):225-8. PubMed ID: 9703621
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  • 11. 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 Jan 01; 74(1-2):172-85. PubMed ID: 11592814
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  • 13. Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia.
    Coşkun T, Karagöz T, Kalkanoğlu S, Tokatli A, Ozalp I, Thöny B, Blau N.
    Turk J Pediatr; 1999 Jan 01; 41(2):231-7. PubMed ID: 10770663
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  • 14. Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.
    Nardocci N, Zorzi G, Blau N, Fernandez Alvarez E, Sesta M, Angelini L, Pannacci M, Invernizzi F, Garavaglia B.
    Neurology; 2003 Jan 28; 60(2):335-7. PubMed ID: 12552057
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  • 15. Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.
    Novelli M, Tolve M, Quiroz V, Carducci C, Bove R, Ricciardi G, Yang K, Manti F, Pisani F, Ebrahimi-Fakhari D, Galosi S, Leuzzi V.
    Mov Disord Clin Pract; 2024 Sep 28; 11(9):1072-1084. PubMed ID: 39001623
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  • 19. [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 28; 24(2):210-2. PubMed ID: 17407085
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