Article
Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations.
Nutrition, metabolism, and cardiovascular diseases : NMCD - 1 Aug 2013
Muntoni Sa, Wiebusch H, Jansen-Rust M, Rust S, Schulte H, Berger K, Pisciotta L, Bertolini S, Funke H, Seedorf U, Assmann G
Abstract excerpt
BACKGROUND AND AIM: The complete absence of the lysosomal acid lipase (LAL) enzyme function causes Wolman's Disease that is fatal within the first six months of life. Subtotal defects cause Cholesteryl ester storage disease (CESD), an autosomal recessive disorder leading to hepatic steatosis, fibrosis, micronodular cirrhosis, combined hyperlipidemia with low HDL-cholesterol, increased risk for atherosclerosis,...
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