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Article

Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.

Molecular genetics and metabolism - 1 Nov 1999

Anderson R A, Bryson G M, Parks J S

Abstract excerpt

Mechanisms producing the divergent phenotypes, Wolman disease (WD) and cholesterol ester storage disease (CESD), associated with the genetic deficiency of human lysosomal acid lipase/cholesterol ester hydrolase (hLAL) function were investigated with the determination of HLAL activity levels, mRNA and protein expression, and defects in structural gene sequences in cells from three WD and five CESD patients....

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Identifiers

PMID: 10562460
DOI: 10.1006/mgme.1999.2904

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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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Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.PMID 10562460Read ↗

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