Cholesteryl ester storage disease (Q53741): Difference between revisions
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Revision as of 01:18, 14 August 2026
Cholesteryl ester storage disease is the term used to group together deficiencies in lysosomal acid lipase associated with a less severe clinical phenotype than that seen in Wolman disease (see this term), with a continuous clinical spectrum between early-onset and severe forms and those that are quasi-asymptomatic, which may reflect variations in the levels of residual acid lipase activity in vivo.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_894336362 |
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| English | Cholesteryl ester storage disease |
Cholesteryl ester storage disease is the term used to group together deficiencies in lysosomal acid lipase associated with a less severe clinical phenotype than that seen in Wolman disease (see this term), with a continuous clinical spectrum between early-onset and severe forms and those that are quasi-asymptomatic, which may reflect variations in the levels of residual acid lipase activity in vivo. |
