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[A case of neonatal intrahepatic cholestasis caused by citrin deficiency complicated with congenital biliary atresia].

作者信息

Tong Fan, Yang Jian-bin, Huang Xiao-lei, Zhou Xue-lian, Yang Ru-lai

机构信息

Email:

出版信息

Zhonghua Er Ke Za Zhi. 2013 Nov;51(11):863-5.

PMID:24484564
Abstract
摘要

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引用本文的文献

1
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.中国 citrin 缺乏症儿科患者的分子诊断:SLC25A13 突变谱和地理分布。
Sci Rep. 2016 Jul 11;6:29732. doi: 10.1038/srep29732.
2
Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance.患有瓜氨酸血症Ⅱ型及胆道和食管先天性异常婴儿的浓缩胆汁综合征:一种具有不完全外显率的新型SLC25A13突变的鉴定及致病性分析
Int J Mol Med. 2014 Nov;34(5):1241-8. doi: 10.3892/ijmm.2014.1929. Epub 2014 Sep 10.