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Journal Abstract Search

175 related items for PubMed ID: 3326735

  • 41.
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  • 42. 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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  • 46. Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
    Liu TT, Chang YH, Chiang SH, Yang YL, Yu WM, Hsiao KJ.
    Hum Mutat; 2001 Jan 20; 18(1):83. PubMed ID: 11438997
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  • 47. Low tetrahydrobiopterin biosynthetic capacity of human monocytes is caused by exon skipping in 6-pyruvoyl tetrahydropterin synthase.
    Leitner KL, Meyer M, Leimbacher W, Peterbauer A, Hofer S, Heufler C, Müller A, Heller R, Werner ER, Thöny B, Werner-Felmayer G.
    Biochem J; 2003 Aug 01; 373(Pt 3):681-8. PubMed ID: 12708971
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  • 51. On-off phenomenon in a child with tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin synthase deficiency (BH4 deficiency).
    Tanaka Y, Matsuo N, Tsuzaki S, Araki K, Tsuchiya Y, Niederwieser A.
    Eur J Pediatr; 1989 Feb 01; 148(5):450-2. PubMed ID: 2646129
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  • 52. Tetrahydrobiopterin deficiency and an international database of patients.
    Blau N, Dhondt JL.
    Adv Exp Med Biol; 1993 Feb 01; 338():255-61. PubMed ID: 8304121
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  • 58. Expression and characterization of recombinant human and rat liver 6-pyruvoyl tetrahydropterin synthase. Modified cysteine residues inhibit the enzyme activity.
    Bürgisser DM, Thöny B, Redweik U, Hunziker P, Heizmann CW, Blau N.
    Eur J Biochem; 1994 Jan 15; 219(1-2):497-502. PubMed ID: 8307017
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  • 60. Purification and characterization of 6-pyruvoyl-tetrahydropterin synthase from Drosophila melanogaster.
    Park YS, Kim JH, Jacobson KB, Yim JJ.
    Biochim Biophys Acta; 1990 Apr 19; 1038(2):186-94. PubMed ID: 2110003
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