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Journal Abstract Search

363 related items for PubMed ID: 6142058

  • 1. 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; 73(2):458-69. PubMed ID: 6142058
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  • 6. 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 Feb; 37(5):489-98. PubMed ID: 6761317
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  • 9. [Malignant phenylketonuria caused by biopterin synthetase deficiency. Study of neuromediator catabolites in the cerebrospinal fluid during treatment].
    Malpuech G, Guyon A, Demeocq F, Piton A, Boespflug O, Vanlieferinghen P.
    Arch Fr Pediatr; 1984 Jan; 41(1):5-8. PubMed ID: 6202269
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  • 10. 6-pyruvoyl tetrahydropterin synthase deficiency: a case report.
    Capistrano-Estrada SB, Nyhan WL.
    Southeast Asian J Trop Med Public Health; 2003 Jan; 34 Suppl 3():186-8. PubMed ID: 15906733
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  • 11. [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 Jan; 34(7 Suppl):CIX-CXX. PubMed ID: 931522
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  • 13. Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China.
    Ye J, Liu X, Ma X, Zhang Y, Huang X, Chen R, Gu X.
    Chin Med J (Engl); 2002 Feb; 115(2):217-21. PubMed ID: 11940335
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  • 14. Response of 6-pyruvoyl-tetrahydropterin synthase deficiency to tetrahydrobiopterin.
    al Aqeel A, Ozand PT, Gascon GG, Hughes H, Reynolds CT, Subramanyam SB.
    J Child Neurol; 1992 Apr; 7 Suppl():S26-30. PubMed ID: 1588012
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  • 15. Successful long term therapy of biopterin deficiency.
    Snyderman SE, Sansaricq C, Pulmones MT.
    J Inherit Metab Dis; 1987 Apr; 10(3):260-6. PubMed ID: 3123784
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  • 16. L-DOPA: from a biologically inactive amino acid to a successful therapeutic agent.
    Hornykiewicz O.
    Amino Acids; 2002 Apr; 23(1-3):65-70. PubMed ID: 12373520
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  • 17. 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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  • 18. Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia.
    Brewster TG, Moskowitz MA, Kaufman S, Breslow JL, Milstien S, Abroms IF.
    Pediatrics; 1979 Jan; 63(1):94-9. PubMed ID: 312482
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