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Article

Mutation in the sterol 27-hydroxylase gene associated with fatal cholestasis in infancy.

Journal of pediatric gastroenterology and nutrition - 1 Apr 2005

von Bahr Sara, Björkhem Ingemar, Van't Hooft Ferdinand, Alvelius Gunvor, Nemeth Antal, Sjövall Jan, Fischler Björn

Abstract excerpt

BACKGROUND: Inborn errors of bile acid synthesis are rare but potentially treatable causes of neonatal cholestasis. We here present a cholestatic infant with an ongoing cytomegalovirus infection who despite intensive treatment died of severe liver disease at 4 months of age. METHODS: The urinary steroids were investigated by electrospray mass spectrometry and gas chromatography mass spectrometry. Oxysterols in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Xanthomatosis, Cerebrotendinous

Source

Identifiers

PMID: 15795599
DOI: 10.1097/01.mpg.0000150419.23031.2a

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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