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186 related items for PubMed ID: 11388593

  • 1. 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]

  • 2. 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.
    Demos MK, Waters PJ, Vallance HD, Lillquist Y, Makhseed N, Hyland K, Blau N, Connolly MB.
    Ann Neurol; 2005 Jul; 58(1):164-7. PubMed ID: 15984017
    [Abstract] [Full Text] [Related]

  • 3. 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; 32 Suppl 1():S279-82. PubMed ID: 19830588
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. [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]

  • 7. 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; 87(2):128-34. PubMed ID: 16364672
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. [Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China].
    Ye J, Qiu WJ, Han LS, Zhang HW, Zhou JD, Gao XL, Wang Y, Gu XF.
    Zhonghua Er Ke Za Zhi; 2008 Apr; 46(4):281-5. PubMed ID: 19099731
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.
    Oppliger T, Thöny B, Kluge C, Matasovic A, Heizmann CW, Ponzone A, Spada M, Blau N.
    Hum Mutat; 1997 Dec; 10(1):25-35. PubMed ID: 9222757
    [Abstract] [Full Text] [Related]

  • 13. "Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.
    Niederwieser A, Shintaku H, Leimbacher W, Curtius HC, Hyànek J, Zeman J, Endres W.
    Eur J Pediatr; 1987 May; 146(3):228-32. PubMed ID: 3297709
    [Abstract] [Full Text] [Related]

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

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. [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]

  • 17. [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]

  • 18. [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]

  • 19. 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; 98(3):313-6. PubMed ID: 8707300
    [Abstract] [Full Text] [Related]

  • 20. 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]

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