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Article

Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease.

Journal of lipid research - 1 Feb 1999

Lohse P, Maas S, Sewell A C, van Diggelen OP, Seidel D

Abstract excerpt

Human lysosomal acid lipase/cholesteryl ester hydrolase (hLAL) is essential for the intralysosomal metabolism of cholesteryl esters and triglycerides taken up by receptor-mediated endocytosis of lipoprotein particles. The key role of the enzyme in intracellular lipid homeostasis is illustrated by two lysosomal storage diseases inherited as autosomal recessive traits. Wolman disease, associated with deficient hLAL...

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PMID: 9925650

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

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Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease.PMID 9925650Read ↗

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease.Semantic proximity Read ↗

Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.Semantic proximity Read ↗

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.Semantic proximity Read ↗

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

Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease.Semantic proximity Read ↗

Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.Semantic proximity Read ↗

New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.Semantic proximity Read ↗

A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred.Semantic proximity Read ↗

Lysosomal acid lipase: a pivotal enzyme in the pathogenesis of cholesteryl ester storage disease and Wolman disease.Semantic proximity Read ↗

Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations.Semantic proximity Read ↗

Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.Semantic proximity Read ↗

Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype.Semantic proximity Read ↗

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