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Journal Abstract Search

121 related items for PubMed ID: 20818608

  • 1. 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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  • 2. 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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  • 3. 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 May; 41(2):231-7. PubMed ID: 10770663
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  • 5. Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency.
    Brüggemann N, Spiegler J, Hellenbroich Y, Opladen T, Schneider SA, Stephani U, Boor R, Gillessen-Kaesbach G, Sperner J, Klein C.
    Arch Neurol; 2012 Aug; 69(8):1071-5. PubMed ID: 22473768
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  • 9. 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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  • 11. Segawa's disease: dopa-responsive dystonia.
    Gordon N.
    Int J Clin Pract; 2008 Jun 28; 62(6):943-6. PubMed ID: 17971156
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  • 12. Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.
    Kikuchi A, Takeda A, Fujihara K, Kimpara T, Shiga Y, Tanji H, Nagai M, Ichinose H, Urano F, Okamura N, Arai H, Itoyama Y.
    Mov Disord; 2004 May 28; 19(5):590-3. PubMed ID: 15133828
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  • 13. Dopa-responsive dystonia presenting as delayed and awkward gait.
    Cheyette BN, Cheyette SN, Cusmano-Ozog K, Enns GM.
    Pediatr Neurol; 2008 Apr 28; 38(4):273-5. PubMed ID: 18358407
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  • 14. GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child - a case report.
    Dayasiri KC, Suraweera N, Nawarathne D, Senanayake UE, Dayanath BKTP, Jasinge E, Weerasekara K.
    BMC Pediatr; 2019 Jun 15; 19(1):199. PubMed ID: 31202265
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  • 15. A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairments.
    Jiang X, Liu H, Shao Y, Peng M, Zhang W, Li D, Li X, Cai Y, Tan T, Lu X, Xu J, Su X, Lin Y, Liu Z, Huang Y, Zeng C, Tang YP, Liu L.
    Metabolism; 2019 May 15; 94():96-104. PubMed ID: 30742839
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  • 16. Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
    Yum MS, Ko TS, Yoo HW, Chung SJ.
    Pediatr Neurol; 2008 May 15; 38(5):367-9. PubMed ID: 18410856
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  • 17. 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 15; 11(9):1072-1084. PubMed ID: 39001623
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  • 18. Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review.
    Chen Y, Liu K, Yang Z, Wang Y, Zhou H.
    Front Genet; 2022 Sep 15; 13():929069. PubMed ID: 36204308
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  • 19. Atypical phenylketonuria due to biopterin deficiency. Early treatment with tetrahydrobiopterin and neurotransmitter precursors, trials of monotherapy.
    Endres W, Niederwieser A, Curtius HC, Wang M, Ohrt B, Schaub J.
    Helv Paediatr Acta; 1982 Sep 15; 37(5):489-98. PubMed ID: 6761317
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  • 20. 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 15; 108(8):784-6. PubMed ID: 16289769
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