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Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.
Tao, Jing; Li, Nana; Jia, Haitao; Liu, Zhen; Li, Xiaohong; Song, Jiaping; Deng, Ying; Jin, Xi; Zhu, Jun.
Afiliação
  • Tao J; National Centre for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Sichuan, China.
  • Li N; West China School of Public Health, Sichuan University, Sichuan, China.
  • Jia H; National Centre for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Sichuan, China.
  • Liu Z; Laboratory of Molecular Epidemiology for Birth Defects, West China Second University Hospital, Sichuan University, Sichuan, China.
  • Li X; BGI-Shenzhen, Shenzhen, Guangdong, China.
  • Song J; National Centre for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Sichuan, China.
  • Deng Y; Laboratory of Molecular Epidemiology for Birth Defects, West China Second University Hospital, Sichuan University, Sichuan, China.
  • Jin X; National Centre for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Sichuan, China.
  • Zhu J; Laboratory of Molecular Epidemiology for Birth Defects, West China Second University Hospital, Sichuan University, Sichuan, China.
Pediatr Res ; 78(6): 691-9, 2015 Dec.
Article em En | MEDLINE | ID: mdl-26322415
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenilalanina Hidroxilase / Fenilcetonúrias / Biopterinas / Mutação Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Pediatr Res Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenilalanina Hidroxilase / Fenilcetonúrias / Biopterinas / Mutação Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Pediatr Res Ano de publicação: 2015 Tipo de documento: Article