Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ<sup>5</sup>-C<sub>27</sub>-steroid oxidoreductase (HSD3B7) deficiency in China.

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作者： Jing,Zhao ^[1] ; Kenneth D R,Setchell ^[2] ; Ying,Gong ^[3] ; Yinghua,Sun ^[4] ; Ping,Zhang ^[5] ; James E,Heubi ^[6] ; Lingjuan,Fang ^[1] ; Yi,Lu ^[1] ; Xinbao,Xie ^[1] ; Jingyu,Gong ^[7] ; Jian-She,Wang ^[8]

作者单位： The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai, 201102, China. ^[1] Department of Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. ^[2] Department of Radiology, Children's Hospital of Fudan University, Shanghai, China. ^[3] Department of Ultrasonography, Children's Hospital of Fudan University, Shanghai, China. ^[4] Center for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China. ^[5] Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. ^[6] Department of Pediatrics, Jinshan Hospital of Fudan University, Shanghai, China. ^[7] The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai, 201102, China. jshwang@shmu.edu.cn. ^[8] Shanghai Key Laboratory of Birth Defect, Shanghai, China. jshwang@shmu.edu.cn. ^[9]

关键词 3β-hydroxy-Δ5-C27-steroid oxidoreductase deficiency Bile acid synthesis Chenodeoxycholic acid Genetic spectrum HSD3B7 Renal lesions

主题词 3-羟甾类脱氢酶类(3-Hydroxysteroid Dehydrogenases);胆汁酸类和盐类(Bile Acids and Salts);中国(China);胆汁淤积(Cholestasis);人类(Humans);婴儿, 新生(Infant, Newborn);氧化还原酶类(Oxidoreductases)

DOI 10.1186/s13023-021-02041-7

PMID 34627351

发布时间 2024-04-03

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