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Article

Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency.

Journal of pediatric gastroenterology and nutrition - 1 Jun 2013

Zhang Bingnan, Porto Anthony F

Abstract excerpt

OBJECTIVE: LIPA gene mutations result in deficiency of lysosomal acid lipase and present phenotypically as Wolman disease or cholesteryl ester storage disease (CESD) depending on the level of deficiency. Patients with CESD may often be misdiagnosed because symptoms may be nonspecific. Symptoms may present in infancy if there is complete loss of lysosomal acid lipase or in early childhood or adulthood when there...

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Source

Identifiers

PMID: 23403440
DOI: 10.1097/MPG.0b013e31828b36ac

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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