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Cholesterol Ester Storage Disease
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Definition
: An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.
See Also
Sterol Esterase
Examples
Wolman Disease
Other names
Cholesteryl Ester Storage Disease