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Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency.

Pediatric research - 1 Sept 2010

Mizuochi Tatsuki, Kimura Akihiko, Ueki Isao, Takahashi Tomoyuki, Hashimoto Takuji, Takao Akira, Seki Yoshitaka, Takei Hajime, Nittono Hiroshi, Kurosawa Takao, Matsuishi Toyojiro

Abstract excerpt

We report definitive diagnosis and effective chenodeoxycholic acid (CDCA) treatment of two Japanese children with 3[beta]-hydroxy-[DELTA]5-C27-steroid dehydrogenase/isomerase deficiency. Findings of cholestasis with normal serum [gamma]-glutamyltransferase activity and total bile acid concentration indicated the need for definitive bile acid analysis. Large amounts of 3[beta]-hydroxy-[DELTA]5 bile acids were...

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PMID: 20531254
DOI: 10.1203/PDR.0b013e3181eb0188

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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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