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[Infant with 3β-hydroxy-Δ(5)-C27 steroid dehydrogenase deficiency: report of two cases and literatures review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 May 2015

Li Xuesong, Huang Zhihua, Wang Hong

Abstract excerpt

OBJECTIVE: To study the clinical characteristics and early diagnosis of children with 3β-hydroxy-Δ(5)-C27-steroid dehydrogenase (3β-HSD) deficiency. METHOD: Data related to clinical characteristics, serum biochemistry, liver pathology, gene mutations and treatment of two children with 3β-HSD deficiency were analyzed and relevant literature was reviewed. Fifty-three cases of 3β-HSD deficiency were reported since...

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Share to 3-Hydroxysteroid Dehydrogenases
Share to Adrenal Hyperplasia, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bile Acids and Salts

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Share to Gas Chromatography-Mass Spectrometry

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PMID: 26080666

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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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