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Article

Lysosomal acid lipase A and the hypercholesterolaemic phenotype.

Current opinion in lipidology - 1 Aug 2013

Fouchier Sigrid W, Defesche Joep C

Abstract excerpt

PURPOSE OF REVIEW: Mutations in lysosomal acid lipase A (LIPA) result in two phenotypes depending on the extent of lysosomal acid lipase (LAL) deficiency: the severe, early-onset Wolman disease or the less severe cholesteryl ester storage disease (CESD). In CESD, the severity of the symptoms, hepatomegaly and hypercholesterolaemia, can be highly variable, presenting in childhood or adulthood. Therefore, it is...

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Source

Identifiers

PMID: 23652569
DOI: 10.1097/MOL.0b013e328361f6c6

Genes

LIPA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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