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Journal Abstract Search

288 related items for PubMed ID: 17708870

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  • 4. [Tetrahydrobiopterin loading test in differential diagnosis among hyperphenylalaninemia patients].
    Zhang ZX, Ye J, Qiu WJ, Han LS, Gu XF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug; 22(4):438-40. PubMed ID: 16086286
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  • 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
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  • 6. [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
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  • 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
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  • 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
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  • 10. [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
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  • 11. A survey for the incidence of phenylketonuria in Guangdong, China.
    Jiang J, Ma X, Huang X, Pei X, Liu H, Tan Z, Zhu L.
    Southeast Asian J Trop Med Public Health; 2003 Apr; 34 Suppl 3():185. PubMed ID: 15906732
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  • 13. Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria.
    Trefz FK, Blau N.
    Pediatrics; 2003 Dec; 112(6 Pt 2):1566-9. PubMed ID: 14654666
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  • 14. [Did the change of technique of screening investigations influence on improvement of test credibility in recognizing and differentiating diagnostics of hiperphenylalaninemias?].
    Didycz B, Lemańska D, Słuszniak A.
    Przegl Lek; 2009 Dec; 66(1-2):11-3. PubMed ID: 19485249
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  • 15. Hyperphenylalaninemia in Polish children's population.
    Cabalska B, Duczynska N, Nowaczewska I, Bozkowa K.
    Acta Anthropogenet; 1985 Dec; 9(1-3):91-102. PubMed ID: 3843752
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  • 16. [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
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  • 17. Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria.
    Boneh A, Francis DE, Humphrey M, Upton HJ, Peters HL.
    J Paediatr Child Health; 2006 Sep; 42(9):496-8. PubMed ID: 16925533
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  • 18. 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
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  • 19. Hyperphenylalaninemia in the Philippines.
    Capistrano-Estrada S, Padilla CD.
    Southeast Asian J Trop Med Public Health; 2003 Dec; 34 Suppl 3():182-4. PubMed ID: 15906731
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  • 20. Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria.
    Ponzone A, Spada M, Roasio L, Porta F, Mussa A, Ferraris S.
    J Pediatr Gastroenterol Nutr; 2008 May; 46(5):561-9. PubMed ID: 18493213
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