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Two novel VPS33B mutations in a patient with arthrogryposis,renal dysfunction and cholestasis syndro
[期刊论文] 作者：Li-Ting Li,Jing,Zhao Rui,Chen,,
来源：世界胃肠病学杂志：英文版（电子版） 年份：2014
Arthrogryposis,renal dysfunction and cholestasis(ARC)syndrome is a rare genetic disorder and has not been described in China.We present a female infant with neo...
[期刊论文] 作者：Jian-She Wang,Jing Zhao,Li-Ting Li,,
来源：World Journal of Gastroenterology 年份：2014
Arthrogryposis,renal dysfunction and cholestasis(ARC)syndrome(OMIM 208085)is an autosomal recessive disorder that is caused by mutations in 2 interacting genes...
Two novel VPS33B mutations in a patient with arthrogryposis,renal dysfunction and cholestasis syndro
[期刊论文] 作者：Li-Ting Li,Jing Zhao,Rui Chen,Jian-She Wang,,
来源：World Journal of Gastroenterology 年份：2014
Arthrogryposis,renal dysfunction and cholestasis(ARC)syndrome is a rare genetic disorder and has not been described in China.We present a female infant with neo...
[期刊论文] 作者：Jing Zhao,Ling-Juan Fang,Kenneth DR Setchell,Rui Chen,Li-Ting Li,Jian-She Wang,,
来源：World Journal of Gastroenterology 年份：2012
Aldo-keto reductase 1D1(AKR1D1) deficiency,a rare but life-threatening form of bile acid deficiency,has not been previously described in China.Here,we describe...
[会议论文] 作者：Hsu-Wei Fang,Chia-Yi Wang,Tzu-Kuan Lin,I-Heng Lan,Li-Ting Li,Wei-Ying Lan,Ming-Jyh Chen,
来源：2016年国际组织工程与再生医学学会亚太会议 年份：2016
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GGT levels variation in patients with ATP8B1 deficiency or ABCB11 deficiency in the first year of li
[会议论文] 作者：Neng-Li Wang,Li-Ting Li,Mei-Hong Zhang,Kuerbanjiang Abuduxikuer,Yi-Ling Qiu,Jing-Yu Gong,Jian-She Wang,
来源：中华医学会第十七次全国病毒性肝炎及肝病学术会议暨2015年中华医学会感染病学分会年会、中华医学会肝病学分会年会 年份：2015
Background and Aims: Genetic defects in ATP8B1 or ABCB11 are major causes for chronic cholestasis with normal GGT.It is unclear how GGT levels in those patients vary while it varies with age in health...
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