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Amplicon sequencing-based carrier screening for 170 monogenic disorders among children with abnormal LC-MS/MS results.
Chen, Xu; Xu, Zhongyao; Lei, Xianghua; Liang, Hui; Wu, Feng; Chen, Ruoqing; Guo, Yongchao; Xiong, Likuan.
Afiliação
  • Chen X; Central Laboratory, Baoan Women's and Children's Hospital, Shenzhen, China; Shenzhen Key Laboratory of Birth Defects Research, Shenzhen, China; Institute of Maternal-Fetal Medicine, Baoan Women's and Children's Hospital, Shenzhen, China.
  • Xu Z; Shenzhen Uni-medica Technology Co., Ltd, Shenzhen, China.
  • Lei X; Shenzhen Uni-medica Technology Co., Ltd, Shenzhen, China.
  • Liang H; Central Laboratory, Baoan Women's and Children's Hospital, Shenzhen, China; Shenzhen Key Laboratory of Birth Defects Research, Shenzhen, China.
  • Wu F; School of Public Health (Shenzhen), Sun Yat-sen University, Shenzhen, China.
  • Chen R; School of Public Health (Shenzhen), Sun Yat-sen University, Shenzhen, China.
  • Guo Y; Shenzhen Uni-medica Technology Co., Ltd, Shenzhen, China.
  • Xiong L; Central Laboratory, Baoan Women's and Children's Hospital, Shenzhen, China; Shenzhen Key Laboratory of Birth Defects Research, Shenzhen, China. Electronic address: xionglk@sina.cn.
Clin Chim Acta ; 539: 274-277, 2023 Jan 15.
Article em En | MEDLINE | ID: mdl-36574877
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenilcetonúrias / Citrulinemia Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenilcetonúrias / Citrulinemia Idioma: En Ano de publicação: 2023 Tipo de documento: Article