Acid Lipase Cross-reacting Material in Wolman Disease and Cholesterol Ester Storage Disease

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1981 Mar 1

PMID 6782865

Citations 5

Authors

B K Burton

S P Reed

Affiliations

Soon will be listed here.

Abstract

Material cross-reacting with antibodies to acid lipase was demonstrated in fibroblasts of three patients with Wolman disease and three with cholesterol ester storage disease. Quantitation of the immunologically cross-reacting material (CRM) by a single radial immunodiffusion method revealed normal levels in both mutant cell types. CRM specific activity toward triolein and cholesteryl oleate was reduced about 200-fold in the Wolman disease fibroblasts and 50- to 100-fold in the cholesterol ester storage disease cells when compared to normal.

Citing Articles

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Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency.

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