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Journal Abstract Search

147 related items for PubMed ID: 18276179

  • 21. Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia.
    Suzuki T, Ohye T, Inagaki H, Nagatsu T, Ichinose H.
    J Neurochem; 1999 Dec; 73(6):2510-6. PubMed ID: 10582612
    [Abstract] [Full Text] [Related]

  • 22. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
    Bonafé L, Thöny B, Penzien JM, Czarnecki B, Blau N.
    Am J Hum Genet; 2001 Aug; 69(2):269-77. PubMed ID: 11443547
    [Abstract] [Full Text] [Related]

  • 23. Molecular genetics of dopa-responsive dystonia.
    Ichinose H, Suzuki T, Inagaki H, Ohye T, Nagatsu T.
    Biol Chem; 1999 Dec; 380(12):1355-64. PubMed ID: 10661862
    [Abstract] [Full Text] [Related]

  • 24. Molecular genetics of hereditary dystonia--mutations in the GTP cyclohydrolase I gene.
    Ichinose H, Nagatsu T.
    Brain Res Bull; 1997 Dec; 43(1):35-8. PubMed ID: 9205791
    [Abstract] [Full Text] [Related]

  • 25. Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.
    Himmelreich N, Blau N, Thöny B.
    Mol Genet Metab; 2021 Jun; 133(2):123-136. PubMed ID: 33903016
    [Abstract] [Full Text] [Related]

  • 26. Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.
    Opladen T, Hoffmann GF, Kühn AA, Blau N.
    Mol Genet Metab; 2013 Mar; 108(3):195-7. PubMed ID: 23375473
    [Abstract] [Full Text] [Related]

  • 27. Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency.
    López-Laso E, Ormazabal A, Camino R, Gascón FJ, Ochoa JJ, Mateos ME, Muñoz MJ, Pérez-Navero JL, Lao JI, Vilaseca MA, Artuch R.
    Clin Biochem; 2006 Sep; 39(9):893-7. PubMed ID: 16624273
    [Abstract] [Full Text] [Related]

  • 28. Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.
    Weissbach A, Pauly MG, Herzog R, Hahn L, Halmans S, Hamami F, Bolte C, Camargos S, Jeon B, Kurian MA, Opladen T, Brüggemann N, Huppertz HJ, König IR, Klein C, Lohmann K.
    Mov Disord; 2022 Feb; 37(2):237-252. PubMed ID: 34908184
    [Abstract] [Full Text] [Related]

  • 29. Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
    Yum MS, Ko TS, Yoo HW, Chung SJ.
    Pediatr Neurol; 2008 May; 38(5):367-9. PubMed ID: 18410856
    [Abstract] [Full Text] [Related]

  • 30. GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.
    Niederwieser A, Blau N, Wang M, Joller P, Atarés M, Cardesa-Garcia J.
    Eur J Pediatr; 1984 Feb; 141(4):208-14. PubMed ID: 6734669
    [Abstract] [Full Text] [Related]

  • 31. Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.
    Leuzzi V, Carducci C, Carducci C, Cardona F, Artiola C, Antonozzi I.
    Neurology; 2002 Oct 22; 59(8):1241-3. PubMed ID: 12391354
    [Abstract] [Full Text] [Related]

  • 32. Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screening.
    Naylor EW, Ennis D, Davidson AG, Wong LT, Applegarth DA, Niederwieser A.
    Pediatrics; 1987 Mar 22; 79(3):374-8. PubMed ID: 3822637
    [Abstract] [Full Text] [Related]

  • 33. A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene.
    Furuya H, Murai H, Takasugi K, Ohyagi Y, Urano F, Kishi T, Ichinose H, Kira J.
    Clin Neurol Neurosurg; 2006 Dec 22; 108(8):784-6. PubMed ID: 16289769
    [Abstract] [Full Text] [Related]

  • 34. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
    Segawa M, Nomura Y, Nishiyama N.
    Ann Neurol; 2003 Dec 22; 54 Suppl 6():S32-45. PubMed ID: 12891652
    [Abstract] [Full Text] [Related]

  • 35. The hph-1 mouse: a model for dominantly inherited GTP-cyclohydrolase deficiency.
    Hyland K, Gunasekara RS, Munk-Martin TL, Arnold LA, Engle T.
    Ann Neurol; 2003 Dec 22; 54 Suppl 6():S46-8. PubMed ID: 12891653
    [Abstract] [Full Text] [Related]

  • 36. [Autosomal recessive GTPCH 1 deficiency: the importance of the analysis of neurotransmitters in cerebrospinal fluid].
    Moreno-Medinilla EE, Mora-Ramirez MD, Calvo-Medina R, Martinez-Anton J.
    Rev Neurol; 2016 Jun 01; 62(11):502-6. PubMed ID: 27222084
    [Abstract] [Full Text] [Related]

  • 37. Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5).
    Segawa M.
    Chang Gung Med J; 2009 Jun 01; 32(1):1-11. PubMed ID: 19292934
    [Abstract] [Full Text] [Related]

  • 38. Genetics and biochemistry of dopa-responsive dystonia: significance of striatal tyrosine hydroxylase protein loss.
    Furukawa Y.
    Adv Neurol; 2003 Jun 01; 91():401-10. PubMed ID: 12442699
    [Abstract] [Full Text] [Related]

  • 39. Dopa-responsive dystonia is induced by a dominant-negative mechanism.
    Hwu WL, Chiou YW, Lai SY, Lee YM.
    Ann Neurol; 2000 Oct 01; 48(4):609-13. PubMed ID: 11026444
    [Abstract] [Full Text] [Related]

  • 40. [GTP cyclohydrolase 1-deficient dopa-responsive hereditary dystonia].
    Teva Galán MD, Esteban Cantó V, Picó Alfonso N, Jover Cerdá J.
    An Pediatr (Barc); 2011 Jul 01; 75(1):55-7. PubMed ID: 21429827
    [Abstract] [Full Text] [Related]

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