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Article

Cholesteryl ester storage disease: an easily missed diagnosis in oligosymptomatic children.

Zeitschrift fur Gastroenterologie - 1 Oct 2013

Freudenberg F, Bufler P, Ensenauer R, Lohse P, Koletzko S

Abstract excerpt

Cholesteryl ester storage disease (CESD) is a rare, autosomal recessively inherited disorder resulting from deficient activity of lysosomal acid lipase (LAL). LAL is the key enzyme hydrolyzing cholesteryl esters and triglycerides stored in lysosomes after LDL receptor-mediated endocytosis. Mutations within the LIPA gene locus on chromosome 10q23.2-q23.3 may result either in the always fatal Wolman disease, where...

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Source

Identifiers

PMID: 24122380
DOI: 10.1055/s-0033-1350463

Genes

LIPA

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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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