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Journal Abstract Search

288 related items for PubMed ID: 3822637

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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 Mar; 41(2):231-7. PubMed ID: 10770663
    [Abstract] [Full Text] [Related]

  • 3. [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]

  • 4. Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency.
    Dhondt JL, Farriaux JP, Boudha A, Largillière C, Ringel J, Roger MM, Leeming RJ.
    J Pediatr; 1985 Jun; 106(6):954-6. PubMed ID: 3873535
    [No Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation.
    Sato H, Uematsu M, Endo W, Nakayama T, Kobayashi T, Hino-Fukuyo N, Sakamoto O, Shintaku H, Kure S.
    Brain Dev; 2014 Mar; 36(3):268-71. PubMed ID: 23660475
    [Abstract] [Full Text] [Related]

  • 7. [Evaluation of 6-years' experience of screening for hyperphenylalaninemia caused by cofactor deficiency].
    Dhondt JL, Farriaux JP, Hayte JM.
    Arch Fr Pediatr; 1986 Dec; 43(10):785-9. PubMed ID: 3827510
    [Abstract] [Full Text] [Related]

  • 8. Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
    Zurflüh MR, Giovannini M, Fiori L, Fiege B, Gokdemir Y, Baykal T, Kierat L, Gärtner KH, Thöny B, Blau N.
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S96-103. PubMed ID: 16275037
    [Abstract] [Full Text] [Related]

  • 9. [Hyperphenylalaninemia in 1981. A diagnostic approach (author's transl)].
    Dhondt JL, Farriaux JP.
    Arch Fr Pediatr; 1981 Oct; 38(8):573-8. PubMed ID: 7316669
    [Abstract] [Full Text] [Related]

  • 10. Tetrahydrobiopterin and inherited hyperphenylalaninemias.
    Blau N, Thony B, Spada M, Ponzone A.
    Turk J Pediatr; 1996 Oct; 38(1):19-35. PubMed ID: 8819618
    [Abstract] [Full Text] [Related]

  • 11. Biopterin cofactor biosynthesis: GTP cyclohydrolase, neopterin and biopterin in tissues and body fluids of mammalian species.
    Duch DS, Bowers SW, Woolf JH, Nichol CA.
    Life Sci; 1984 Oct 29; 35(18):1895-901. PubMed ID: 6492998
    [Abstract] [Full Text] [Related]

  • 12. A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program.
    Blau N, Ichinose H, Nagatsu T, Heizmann CW, Zacchello F, Burlina AB.
    J Pediatr; 1995 Mar 29; 126(3):401-5. PubMed ID: 7869202
    [Abstract] [Full Text] [Related]

  • 13. [Hyperphenylalaninaemia with normal phenylalanine-hydroxylase activity and a deficiency of tetrahydrobiopterin and dihydropteridine reductase].
    Rey F, Harpey JP, Leeming RJ, Blair JA, Aicardi J, Rey J.
    Arch Fr Pediatr; 1977 Mar 29; 34(7 Suppl):CIX-CXX. PubMed ID: 931522
    [Abstract] [Full Text] [Related]

  • 14. [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 29; 22(4):438-40. PubMed ID: 16086286
    [Abstract] [Full Text] [Related]

  • 15. Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.
    Kaufman S, Berlow S, Summer GK, Milstien S, Schulman JD, Orloff S, Spielberg S, Pueschel S.
    N Engl J Med; 1978 Sep 28; 299(13):673-9. PubMed ID: 683251
    [Abstract] [Full Text] [Related]

  • 16. 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 28; 26(1):157-61. PubMed ID: 20818608
    [Abstract] [Full Text] [Related]

  • 17. Hyperphenylalaninemia in the hph-1 mouse mutant.
    McDonald JD, Bode VC.
    Pediatr Res; 1988 Jan 28; 23(1):63-7. PubMed ID: 3340448
    [Abstract] [Full Text] [Related]

  • 18. Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine.
    Milstien S, Kaufman S, Summer GK.
    Pediatrics; 1980 Apr 28; 65(4):806-10. PubMed ID: 7367090
    [Abstract] [Full Text] [Related]

  • 19. Enzymatic cleavage of guanosine triphosphate (GTP) by GTP cyclohydrolase I.
    Werner-Felmayer G, Werner ER, Reibnegger G, Wachter.
    Scand J Clin Lab Invest; 1992 Feb 28; 52(1):65-6. PubMed ID: 1594890
    [No Abstract] [Full Text] [Related]

  • 20. Malignant phenylketonuria due to defective synthesis of dihydrobiopterin.
    Cohen BE, Szeinberg A, Quint J, Normand M, Blonder J, Peled I.
    Isr J Med Sci; 1985 Jun 28; 21(6):520-5. PubMed ID: 3874852
    [Abstract] [Full Text] [Related]

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