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1例进行性家族性肝内胆汁淤积症2型婴儿的临床和遗传学分析 Clinical and genetic analysis of an infant with progressive familial intrahepatic cholestasis type Ⅱ 期刊论文
2018, 卷号: 20, 期号: 9, 页码: 758
作者:  林桂枝[1];  邱建武[1];  程映[1];  林伟霞[1];  宋元宗[1]
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/13
影响新生儿胆汁淤积症预后的多因素分析 Analysis of factors affecting the prognosis of neonatal cholestasis 期刊论文
2018, 卷号: 41, 期号: 6, 页码: 481
作者:  杨秀芳[1];  柳国胜[2];  郑铠军[1];  林蔷[1];  陈简[1]
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/13
Hepatic Tmem30a Deficiency Causes Intrahepatic Cholestasis by Impairing Expression and Localization of Bile Salt Transporters (vol 187, pg 2775, 2017) 期刊论文
2018, 卷号: 188, 期号: 8, 页码: 1934
作者:  Liu, Leiming[1,3];  Zhang, Lingling[4];  Zhang, Lin[5,6,7,8,9];  Yang, Fan[3];  Zhu, Xudong[4]
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/17
Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele 期刊论文
2017, 卷号: 8, 期号: 50, 页码: 87182
作者:  Zhang, Zhan-Hui[1];  Lin, Wei-Xia[2];  Zheng, Qi-Qi[2];  Guo, Li[2];  Song, Yuan-Zong[2]
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/09
Analysis of islet beta cell functions and their correlations with liver dysfunction in patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) 期刊论文
2017, 卷号: 96, 期号: 45
作者:  Lu, Chun-Ting[1];  Yang, Jing[2];  Huang, Si-Min[2];  Feng, Lie[3];  Li, Ze-Jian[4]
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/10
关节挛缩、肾功能不全和胆汁淤积综合征一家系临床特点及VPS33B基因突变分析 Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome 期刊论文
2017, 卷号: 19, 期号: 10, 页码: 1077
作者:  黄大桂;  刘佳佳;  郭丽;  宋元宗
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/13
Application of high-throughput sequencing technologies with target capture/target next-generation sequencing in diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) 期刊论文
2017, 卷号: 10, 期号: 3, 页码: 3480
作者:  Hao, Hu[1,2];  Li, Sitao[2];  Wu, Shiguang[4];  Shi, Congcong[3];  Li, Fei[2]
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/13
Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study 期刊论文
2016, 卷号: 2016, 期号: [db:dc_citation_issue]
作者:  Zheng, Qi-Qi[1];  Zhang, Zhan-Hui[2];  Zeng, Han-Shi[1];  Lin, Wei-Xia[1];  Yang, Heng-Wen[3]
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/03
[Clinical feature and ATP8B1 mutation analysis of a patient with progressive familial intrahepatic cholestasis type I]. 期刊论文
2016, 卷号: 18, 期号: 8
作者:  Cheng, Ying[1];  Guo, Li;  Song, Yuan-Zong
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/13
SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency 期刊论文
2016, 卷号: 14, 期号: 6, 页码: 5189
作者:  Zeng, Han-Shi[1];  Lin, Wei-Xia[1];  Zhao, Shu-Tao[1]
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/06

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