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[Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1995

Tanaka A

Abstract excerpt

Wolman disease and cholesteryl ester storage disease (CESD) are caused by a deficiency of lysosomal acid lipase activity, resulting in massive accumulation of cholesteryl ester and triglycerides. Wolman disease occurs in infancy, with hepatosplenomegaly, steatorrhea and adrenal calcification. It is fatal before the age of 1 year. In CESD, hepatomegaly may be the only clinical abnormality, although lipid...

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PMID: 8577049

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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