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Article

[Clinical features of a Chinese infant with inborn error of bile acid metabolism-3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency and review of the literature].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Aug 2013

Yang Tian-jiao, Xie Xin-bao, Yao Wei-lei, Wang Hui-jun, Yu Hui, Wang Xiao-hong

Abstract excerpt

OBJECTIVE: To study the clinical features of children with 3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency and review the literature. METHOD: Clinical features and treatment of one Chinese infant with 3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency confirmed by HSD3B7 gene mutation analysis were retrospectively reviewed, and 51 cases of 3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency who were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24225297

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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