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Cholesteryl ester storage disease (CESD) and Wolman disease are autosomal recessive later‐onset and severe infantile disorders, respectively, which result from the deficient activity of lysosomal acid lipase (LAL). LAL is encoded by LIPA (10q23.31) and the most common mutation associated with CESD is an exon 8 splice junction mutation (c.894G>A; E8SJM), which expresses only ∼3%‐5% of normally spliced...
Nonalcoholic fatty liver disease (NAFLD) is an escalating health problem that is frequently associated with obesity and insulin resistance. The mechanistic relationship between NAFLD, obesity, and insulin resistance is not well understood. A nonsynonymous variant in patatin‐like phospholipase domain containing 3 (rs738409, I148M) has been reproducibly associated with increased hepatic triglyceride...
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