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Journal Abstract Search

134 related items for PubMed ID: 17160954

  • 21. Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.
    Thöny B, Leimbacher W, Blau N, Harvie A, Heizmann CW.
    Am J Hum Genet; 1994 May; 54(5):782-92. PubMed ID: 8178819
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  • 23. Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province.
    Xie K, Zeng B, Zhang L, Chen S, Zou Y, Yuan H, Huang S, Wang F, Lu Q, Liu Y, Yang B.
    Front Genet; 2022 May; 13():1077729. PubMed ID: 36583021
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  • 24. Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency.
    Muniz JRC, Szeto NW, Frise R, Lee WH, Wang XS, Thöny B, Himmelreich N, Blau N, Hsiao KJ, Liu TT, Gileadi O, Oppermann U, Von Delft F, Yue WW, Tang NL.
    Pathology; 2019 Apr; 51(3):274-280. PubMed ID: 30853107
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  • 30. Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China.
    Qiu X, Zhao P, Luo J, Li G, Deng L, Zeng Y, Xu L, Zhou J.
    Front Genet; 2023 Apr; 14():1250568. PubMed ID: 37636258
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  • 31. Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.
    Ye J, Yang Y, Yu W, Zou H, Jiang J, Yang R, Shang S, Gu X.
    J Inherit Metab Dis; 2013 Sep; 36(5):893-901. PubMed ID: 23138986
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  • 34. Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency.
    Liu KM, Liu TT, Lee NC, Cheng LY, Hsiao KJ, Niu DM.
    Arch Neurol; 2008 Mar; 65(3):387-92. PubMed ID: 18332253
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