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146 related items for PubMed ID: 10984672

  • 1. Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency.
    Shintaku H, Asada M, Sawada Y.
    Brain Dev; 2000 Sep; 22 Suppl 1():S118-21. PubMed ID: 10984672
    [Abstract] [Full Text] [Related]

  • 2. 6-pyruvoyl tetrahydropterin synthase deficiency: a case report.
    Capistrano-Estrada SB, Nyhan WL.
    Southeast Asian J Trop Med Public Health; 2003 Sep; 34 Suppl 3():186-8. PubMed ID: 15906733
    [Abstract] [Full Text] [Related]

  • 3. Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan.
    Niu DM.
    Brain Dev; 2011 Nov; 33(10):847-55. PubMed ID: 21880449
    [Abstract] [Full Text] [Related]

  • 4. Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.
    Dudesek A, Röschinger W, Muntau AC, Seidel J, Leupold D, Thöny B, Blau N.
    Eur J Pediatr; 2001 May; 160(5):267-76. PubMed ID: 11388593
    [Abstract] [Full Text] [Related]

  • 5. A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels.
    Ogawa A, Kanazawa M, Takayanagi M, Kitani Y, Shintaku H, Kohno Y.
    Brain Dev; 2008 Jan; 30(1):82-5. PubMed ID: 17590551
    [Abstract] [Full Text] [Related]

  • 6. Tetrahydrobiopterin biosynthetic pathway and deficiency.
    Niederwieser A, Curtius HC.
    Enzyme; 1987 Jan; 38(1-4):302-11. PubMed ID: 3326735
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  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. [Screening for 6-pyruvoyl-tetrahydrobiopterin synthase (PTPS) deficiency: clinical analysis of 9 patients with PTPS deficiency].
    Ye J, Liu X, Huang X.
    Zhonghua Yi Xue Za Zhi; 2000 Jul; 80(7):513-5. PubMed ID: 11798810
    [Abstract] [Full Text] [Related]

  • 9. Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.
    Jäggi L, Zurflüh MR, Schuler A, Ponzone A, Porta F, Fiori L, Giovannini M, Santer R, Hoffmann GF, Ibel H, Wendel U, Ballhausen D, Baumgartner MR, Blau N.
    Mol Genet Metab; 2008 Mar; 93(3):295-305. PubMed ID: 18060820
    [Abstract] [Full Text] [Related]

  • 10. [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].
    Dhondt JL, Hayte JM.
    Ann Biol Clin (Paris); 2002 Mar; 60(2):165-71. PubMed ID: 11937441
    [Abstract] [Full Text] [Related]

  • 11. [Study on tetrahydrobiopterin deficiency in Northern Chinese population].
    Wang L, Yu WM, Li XW, He C, Chang M, Shen M, Zhao SP, Fu GX, Shen S, Liu TT, Hsiao KJ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun; 23(3):275-9. PubMed ID: 16767663
    [Abstract] [Full Text] [Related]

  • 12. [Detection of the prevalent mutations of 6-pyruvoyl-tetrahydropterin synthase gene by PCR-RFLP analysis in Chinese patients].
    Qu YJ, Song F, Wang H, Jin YW.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Dec; 23(6):680-2. PubMed ID: 17160954
    [Abstract] [Full Text] [Related]

  • 13. [Studies on neonatal screening, clinical and gene analysis for tetrahydrobiopterin deficiency in Southern Chinese].
    Ye J, Liu X, Ma X, Huang X, Zhang Y, Gu X, Chen R.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Apr; 18(2):92-5. PubMed ID: 11295124
    [Abstract] [Full Text] [Related]

  • 14. Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
    Manzoni F, Salvatici E, Burlina A, Andrews A, Pasquali M, Longo N.
    Mol Genet Metab; 2020 Dec; 131(4):380-389. PubMed ID: 33234470
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  • 18. Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.
    Blau N, Scherer-Oppliger T, Baumer A, Riegel M, Matasovic A, Schinzel A, Jaeken J, Thöny B.
    Hum Mutat; 2000 Dec; 16(1):54-60. PubMed ID: 10874306
    [Abstract] [Full Text] [Related]

  • 19. [The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency].
    Ye J, Qiu WJ, Han LS, Zhou JD, Gao XL, Gu XF.
    Zhonghua Yu Fang Yi Xue Za Zhi; 2009 Feb; 43(2):128-31. PubMed ID: 19534905
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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