NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients.

Li, Zhong Die; Abuduxikuer, Kuerbanjiang; Zhang, Jing; Yang, Ye; Qiu, Yi-Ling; Huang, Yuge; Xie, Xin-Bao; Lu, Yi; Wang, Jian-She

Li, Zhong Die; Abuduxikuer, Kuerbanjiang; Zhang, Jing; Yang, Ye; Qiu, Yi-Ling; Huang, Yuge; Xie, Xin-Bao; Lu, Yi; Wang, Jian-She.

Afiliação

Li ZD; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
Abuduxikuer K; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
Zhang J; Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai, China.
Yang Y; Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai, China.
Qiu YL; Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai, China.
Huang Y; Department of Pediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
Xie XB; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
Lu Y; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
Wang JS; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.

Hepatol Res ; 50(11): 1306-1315, 2020 Nov.

Article em En | MEDLINE | ID: mdl-32812336

Palavras-chave

NBAS; SOPH syndrome; acute liver failure; genotype-phenotype correlation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Hepatol Res Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China

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