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Journal Abstract Search

328 related items for PubMed ID: 6734669

  • 1. 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
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  • 3. 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
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  • 4. 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 Jun; 41(2):231-7. PubMed ID: 10770663
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  • 6. Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis.
    Güttler F, Lou H, Lykkelund C, Niederwieser A.
    Eur J Pediatr; 1984 Jun; 142(2):126-9. PubMed ID: 6468427
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  • 7. Inhibition of GTP cyclohydrolase I by pterins.
    Shen RS, Alam A, Zhang YX.
    Biochim Biophys Acta; 1988 Apr 14; 965(1):9-15. PubMed ID: 3349105
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  • 8. Biochemical defect of the hph-1 mouse mutant is a deficiency in GTP-cyclohydrolase activity.
    McDonald JD, Cotton RG, Jennings I, Ledley FD, Woo SL, Bode VC.
    J Neurochem; 1988 Feb 14; 50(2):655-7. PubMed ID: 3335865
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  • 10. 7-Substituted pterins. A new class of mammalian pteridines.
    Curtius HC, Matasovic A, Schoedon G, Kuster T, Guibaud P, Giudici T, Blau N.
    J Biol Chem; 1990 Mar 05; 265(7):3923-30. PubMed ID: 2303485
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  • 12. Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.
    Nardecchia F, Chiarotti F, Carducci C, Santagata S, Valentini G, Angeloni A, Blau N, Leuzzi V.
    Eur J Pediatr; 2017 Jul 05; 176(7):917-924. PubMed ID: 28540433
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  • 14. [Biopterin and child neurologic disease].
    Shintaku H.
    No To Hattatsu; 2009 Jan 05; 41(1):5-10. PubMed ID: 19172809
    [Abstract] [Full Text] [Related]

  • 15. Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency.
    Niederwieser A, Curtius HC, Bettoni O, Bieri J, Schircks B, Viscontini M, Schaub J.
    Lancet; 1979 Jan 20; 1(8108):131-3. PubMed ID: 84153
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  • 16. Biopterin synthesis defect. Treatment with L-dopa and 5-hydroxytryptophan compared with therapy with a tetrahydropterin.
    McInnes RR, Kaufman S, Warsh JJ, Van Loon GR, Milstien S, Kapatos G, Soldin S, Walsh P, MacGregor D, Hanley WB.
    J Clin Invest; 1984 Feb 20; 73(2):458-69. PubMed ID: 6142058
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  • 19. Liver enzyme activities in hyperphenylalaninaemia due to a defective synthesis of tetrahydrobiopterin.
    Dhondt JL, Cotton RG, Danks DM.
    J Inherit Metab Dis; 1985 Feb 20; 8(2):47-8. PubMed ID: 3939528
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