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Article

Primary ∆4-3-oxosteroid 5β-reductase deficiency: two cases in China.

World journal of gastroenterology - 21 Dec 2012

Zhao Jing, Fang Ling-Juan, Setchell Kenneth D R, Chen Rui, Li Li-Ting, Wang Jian-She

Abstract excerpt

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 the first two primary ∆4-3-oxosteroid 5β-reductase deficiency patients in Mainland China diagnosed by fast atom bombardment-mass spectroscopy of urinary bile acids and confirmed by genetic analysis. A high proportion of atypical 3-oxo-∆4-bile acids in...

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PMID: 23323017
DOI: 10.3748/wjg.v18.i47.7113
PMCID: PMC3531703

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