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Journal Abstract Search

96 related items for PubMed ID: 16624273

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  • 4. 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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  • 5. 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
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  • 6. 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; 79(3):374-8. PubMed ID: 3822637
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  • 8. 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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  • 9. 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
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  • 10. Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.
    Hyland K, Nygaard TG, Trugman JM, Swoboda KJ, Arnold LA, Sparagana SP.
    J Inherit Metab Dis; 1999 May; 22(3):213-5. PubMed ID: 10384370
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  • 12. [Tetrahydrobiopterin loading test in differential diagnosis among hyperphenylalaninemia patients].
    Zhang ZX, Ye J, Qiu WJ, Han LS, Gu XF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug; 22(4):438-40. PubMed ID: 16086286
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  • 13. [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
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  • 14. Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency.
    Dhondt JL, Tilmont P, Ringel J, Farriaux JP.
    J Inherit Metab Dis; 1990 Apr; 13(6):879-82. PubMed ID: 2079836
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  • 15. 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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  • 17. [Clinical problems of the genetic heterogeneity in hyperphenylalaninemias].
    Grüttner R, Sternowsky HJ, Rybak C.
    Monatsschr Kinderheilkd (1902); 1971 Nov 15; 119(11):600-4. PubMed ID: 5133646
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  • 20. Hypertyrosinaemia.
    Hyánek J, Holub J, Stechovská M, Hoza J, Simková M, Karger P, Valík A, Kunová V.
    Acta Univ Carol Med Monogr; 1977 Nov 15; (79 Pt 3):31-8. PubMed ID: 615479
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