Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.

Lin, Yiming; Liu, Yaru; Zhu, Lin; Le, Kaixing; Shen, Yuyan; Yang, Chiju; Chen, Xigui; Hu, Haili; Ma, Qingqing; Shi, Xueqin; Hu, Zhenzhen; Yang, Jianbin; Shen, Yaping; Lin, Chien-Hsing; Huang, Chenggang; Huang, Xinwen

Lin, Yiming; Liu, Yaru; Zhu, Lin; Le, Kaixing; Shen, Yuyan; Yang, Chiju; Chen, Xigui; Hu, Haili; Ma, Qingqing; Shi, Xueqin; Hu, Zhenzhen; Yang, Jianbin; Shen, Yaping; Lin, Chien-Hsing; Huang, Chenggang; Huang, Xinwen.

Afiliação

Lin Y; Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Liu Y; Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, Quanzhou, China.
Zhu L; Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Le K; Zhejiang University School of Medicine, Hangzhou, China.
Shen Y; Department of Translational Medicine, Hangzhou Genuine Clinical Laboratory Co. Ltd, Hangzhou, China.
Yang C; Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Chen X; Zhejiang University School of Medicine, Hangzhou, China.
Hu H; Neonatal Disease Screening Center, Huaihua Maternal and Child Health Hospital, Huaihua, China.
Ma Q; Neonatal Disease Screening Center, Jining Maternal and Child Health Family Service Center, Jining, China.
Shi X; Neonatal Disease Screening Center, Jining Maternal and Child Health Family Service Center, Jining, China.
Hu Z; Neonatal Disease Screening Center, Hefei Women and Children's Health Care Hospital, Hefei, China.
Yang J; Neonatal Disease Screening Center, Hefei Women and Children's Health Care Hospital, Hefei, China.
Shen Y; Department of Pediatrics, Yancheng Maternity and Child Health Care Hospital, Yancheng, China.
Lin CH; Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Huang C; Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Huang X; Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

J Inherit Metab Dis ; 43(3): 467-477, 2020 05.

Article em En | MEDLINE | ID: mdl-31845334

Assuntos

Colestase Intra-Hepática/etiologia; Colestase Intra-Hepática/genética; Citrulinemia/complicações; Proteínas de Transporte da Membrana Mitocondrial/genética; China; Feminino; Frequência do Gene; Testes Genéticos; Técnicas de Genotipagem; Humanos; Recém-Nascido; Masculino; Mutação; Triagem Neonatal

Palavras-chave

Agena iPLEX assay; MassARRAY genotyping; SLC25A13; neonatal intrahepatic cholestasis caused by citrin deficiency; newborn screening

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colestase Intra-Hepática / Citrulinemia / Proteínas de Transporte da Membrana Mitocondrial Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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