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

Jing Zhao1, Ling-Juan Fang, Kenneth D R Setchell

  • 1Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.

World Journal of Gastroenterology
|January 17, 2013
PubMed
Summary

The first two patients with primary ∆4-3-oxosteroid 5β-reductase deficiency were identified in China. This rare bile acid deficiency was diagnosed using mass spectroscopy and genetic analysis, with successful treatment using ursodeoxycholic acid.

Keywords:
Aldo-keto reductase 1D1Bile acid synthetic defectsBile acid therapyCholestasisPrimary ∆4-3-oxosteroid 5β-reductase gene

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