These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

423 related articles for article (PubMed ID: 11940335)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China.
    Han B; Zou H; Han B; Zhu W; Cao Z; Liu Y
    Brain Dev; 2015 Jun; 37(6):592-8. PubMed ID: 25304915
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients].
    Yang L; Zhang ZX; Ye J; Zhou ZS; Shen M; Han LS; Qiu W; Yu WM; Gu XF
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Jun; 24(3):310-3. PubMed ID: 17557244
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 11(1):76-83. PubMed ID: 9450907
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation].
    Ye J; Liu XQ; Qiu WJ; Han LS; Zhou JD; Zhang YF; Gu XF
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Apr; 24(2):210-2. PubMed ID: 17407085
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.
    Fiori L; Fiege B; Riva E; Giovannini M
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S67-74. PubMed ID: 16198137
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 6-pyruvoyl tetrahydropterin synthase deficiency: a case report.
    Capistrano-Estrada SB; Nyhan WL
    Southeast Asian J Trop Med Public Health; 2003; 34 Suppl 3():186-8. PubMed ID: 15906733
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia.
    Feillet F; Chery C; Namour F; Kimmoun A; Favre E; Lorentz E; Battaglia-Hsu SF; Guéant JL
    Early Hum Dev; 2008 Sep; 84(9):561-7. PubMed ID: 18321666
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [An eighteen-year study on phenylketonuria].
    Yu WM; Xu L; Li XW; He C; Shen M; Zhang ZX; Jin YY; Zhou ZS; Qiao F
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2003 Apr; 25(2):218-22. PubMed ID: 12905726
    [TBL] [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; 16(1):54-60. PubMed ID: 10874306
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Plasma biopterin levels and tetrahydrobiopterin responsiveness.
    Shintaku H; Fujioka H; Sawada Y; Asada M; Yamano T
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S104-6. PubMed ID: 16183315
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.