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检索条件"主题词=Bile acid synthetic defects"
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Primary 4-3-oxosteroid 5β-reductase deficiency:Two cases in China
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World Journal of Gastroenterology 2012年 第47期18卷 7113-7117页
作者: Jing Zhao Ling-Juan Fang Kenneth DR Setchell Rui Chen Li-Ting Li Jian-She Wang Center for Pediatric Liver Diseases Children's Hospital of Fudan University Department of Pathology and Laboratory Medicine Cincinnati Children's Hospital Medical CenterCincinnatiOH 45229United States Department of Pediatrics Jinshan Hospital of Fudan University
Aldo-keto reductase 1D1(AKR1D1) deficiency,a rare but life-threatening form of bile acid deficiency,has not been previously described in ***,we describe the first two primary 4-3-oxosteroid 5β-reductase deficiency pa... 详细信息
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