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Journal Abstract Search


175 related items for PubMed ID: 3326735

  • 21. Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients.
    Thöny B, Leimbacher W, Stuhlmann H, Heizmann CW, Blau N.
    Hum Gene Ther; 1996 Aug 20; 7(13):1587-93. PubMed ID: 8864759
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  • 26. Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers.
    Shintaku H, Niederwieser A, Leimbacher W, Curtius HC.
    Eur J Pediatr; 1988 Jan 20; 147(1):15-9. PubMed ID: 3276524
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  • 29. [Detection, differential diagnosis, and prenatal diagnosis of tetrahydrobiopterin deficiency].
    Niederwieser A, Curtius HC.
    Arch Fr Pediatr; 1987 Jan 20; 44 Suppl 1():661-4. PubMed ID: 2452621
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  • 32. Expression and regulation of rat 6-pyruvoyl tetrahydropterin synthase mRNA.
    Hirayama K, Kapatos G.
    Neurochem Int; 1995 Jun 20; 26(6):601-6. PubMed ID: 7545485
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  • 34. Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.
    Thöny B, Blau N.
    Hum Mutat; 1997 Jun 20; 10(1):11-20. PubMed ID: 9222755
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  • 37. A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.
    Ashida A, Owada M, Hatakeyama K.
    Genomics; 1994 Nov 15; 24(2):408-10. PubMed ID: 7698774
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  • 39. Purification of 6-pyruvoyl-tetrahydropterin synthase from human liver.
    Takikawa S, Curtius HC, Redweik U, Ghisla S.
    Biochem Biophys Res Commun; 1986 Jan 29; 134(2):646-51. PubMed ID: 3511907
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  • 40. Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
    Liu TT, Hsiao KJ, Lu SF, Wu SJ, Wu KF, Chiang SH, Liu XQ, Chen RG, Yu WM.
    Hum Mutat; 1998 Jan 29; 11(1):76-83. PubMed ID: 9450907
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