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Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by
[期刊论文] 作者：Hui-Hui Wang,Fei-Qiu Wen,Dong-,
来源：世界胃肠病学杂志：英文版 年份：2018
Steroid 5β-reductase[aldo-keto reductase family 1 member D1(AKR1D1)]is essential for bile acid biosynthesis.Bile acid deficiency caused by genetic defects in A...
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