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134 related items for PubMed ID: 17160954

  • 1. [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]

  • 2. [Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency].
    Qu YJ, Song F, Jin YW, Wang H.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2008 Apr; 30(2):170-4. PubMed ID: 18505119
    [Abstract] [Full Text] [Related]

  • 3. 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 Apr; 11(1):76-83. PubMed ID: 9450907
    [Abstract] [Full Text] [Related]

  • 4. 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 Apr; 18(1):83. PubMed ID: 11438997
    [Abstract] [Full Text] [Related]

  • 5. [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]

  • 6. 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]

  • 7. [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]

  • 8. Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.
    Liu TT, Chiang SH, Wu SJ, Hsiao KJ.
    Clin Chim Acta; 2001 Nov; 313(1-2):157-69. PubMed ID: 11694255
    [Abstract] [Full Text] [Related]

  • 9. Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients.
    Imamura T, Okano Y, Shintaku H, Hase Y, Isshiki G.
    J Hum Genet; 1999 Nov; 44(3):163-8. PubMed ID: 10319579
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. [PTPS gene analysis and prenatal diagnosis in patients with 6-pyruvoyl-tetra hydropterin synthase deficiency].
    Liu N, Zhao DH, Li XL, Cui LX, Wu QH, Jiang M, Kong XD.
    Zhonghua Fu Chan Ke Za Zhi; 2016 Dec 25; 51(12):890-894. PubMed ID: 28057123
    [Abstract] [Full Text] [Related]

  • 12. Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency.
    Vatanavicharn N, Kuptanon C, Liammongkolkul S, Liu TT, Hsiao KJ, Ratanarak P, Blau N, Wasant P.
    J Inherit Metab Dis; 2009 Dec 25; 32 Suppl 1():S279-82. PubMed ID: 19830588
    [Abstract] [Full Text] [Related]

  • 13. Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency.
    Shintaku H, Asada M, Sawada Y.
    Brain Dev; 2000 Sep 25; 22 Suppl 1():S118-21. PubMed ID: 10984672
    [Abstract] [Full Text] [Related]

  • 14. Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.
    Liu TT, Hsiao KJ.
    Hum Genet; 1996 Sep 25; 98(3):313-6. PubMed ID: 8707300
    [Abstract] [Full Text] [Related]

  • 15. [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 25; 23(3):275-9. PubMed ID: 16767663
    [Abstract] [Full Text] [Related]

  • 16. Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan.
    Niu DM.
    Brain Dev; 2011 Nov 25; 33(10):847-55. PubMed ID: 21880449
    [Abstract] [Full Text] [Related]

  • 17. Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.
    Lee NC, Cheng LY, Liu TT, Hsiao KJ, Chiu PC, Niu DM.
    Mol Genet Metab; 2006 Feb 25; 87(2):128-34. PubMed ID: 16364672
    [Abstract] [Full Text] [Related]

  • 18. 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 25; 131(4):380-389. PubMed ID: 33234470
    [Abstract] [Full Text] [Related]

  • 19. 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 25; 16(1):54-60. PubMed ID: 10874306
    [Abstract] [Full Text] [Related]

  • 20. [Characteristics of gene variants among patients with hyperphenylalaninemia from Quanzhou region of Fujian province].
    Su R, Zhu L, Lin Y, Zhu J, Zheng F, Fu Q.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov 10; 36(11):1062-1066. PubMed ID: 31703126
    [Abstract] [Full Text] [Related]

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