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Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.
Liao, Hsuan-Chieh; Hsu, Ting-Rong; Young, Leslie; Chiang, Chuan-Chi; Huang, Chun-Kai; Liu, Hao-Chuan; Niu, Dau-Ming; Chen, Yann-Jang.
Afiliação
  • Liao HC; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Chinese Foundation of Health, Newborn Screening Center, Taipei, Taiwan.
  • Hsu TR; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Young L; Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, Taiwan.
  • Chiang CC; Chinese Foundation of Health, Newborn Screening Center, Taipei, Taiwan.
  • Huang CK; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Liu HC; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Niu DM; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. Electronic address: dmniu@vghtpe.gov.tw.
  • Chen YJ; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Taipei City Hospital, Renai Branch, Taipei, Taiwan. Electronic address: yjchen@ym.edu.
Mol Genet Metab ; 123(2): 140-147, 2018 02.
Article em En | MEDLINE | ID: mdl-28615118
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Biomarcadores / Doença de Fabry / Alfa-Galactosidase / Teste em Amostras de Sangue Seco / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Male / Newborn País/Região como assunto: Asia Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Taiwan
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Biomarcadores / Doença de Fabry / Alfa-Galactosidase / Teste em Amostras de Sangue Seco / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Male / Newborn País/Região como assunto: Asia Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Taiwan