cholesteryl ester storage disease(English)
- an autosomal recessive lysosomal storage disorder caused by a variety of mutations of the LIPA gene. These cause reduced activity of lysosomal acid lipase, which results in accumulation of cholesteryl esters in lysosomes
- LIPA, LAL
- Congenital disorders, Liver disease
- https://doi.org…ath-2012-201302