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Journal Abstract Search

169 related items for PubMed ID: 2079836

  • 1. 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; 13(6):879-82. PubMed ID: 2079836
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  • 2. Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue.
    Blau N, Kierat L, Matasovic A, Leimbacher W, Heizmann CW, Guardamagna O, Ponzone A.
    Clin Chim Acta; 1994 May; 226(2):159-69. PubMed ID: 7923811
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  • 4. Differential diagnosis of tetrahydrobiopterin deficiency.
    Niederwieser A, Ponzone A, Curtius HC.
    J Inherit Metab Dis; 1985 May; 8 Suppl 1():34-8. PubMed ID: 3930839
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  • 5. [Malignant hyperphenylalaninemia--tetrahydrobiopterin (BH4) deficiency].
    Shintaku H.
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):493-6. PubMed ID: 3270853
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  • 6. 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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  • 11. Tetrahydrobiopterin deficiency and an international database of patients.
    Blau N, Dhondt JL.
    Adv Exp Med Biol; 1993 Feb; 338():255-61. PubMed ID: 8304121
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  • 17. Regulation of GTP cyclohydrolase I and dihydropteridine reductase in rat pheochromocytoma PC 12 cells.
    Shen RS, Zhang YX, Perez-Polo JR.
    J Enzyme Inhib; 1989 Feb; 3(2):119-26. PubMed ID: 2484967
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  • 20. [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].
    Dhondt JL, Hayte JM.
    Ann Biol Clin (Paris); 2002 Feb; 60(2):165-71. PubMed ID: 11937441
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