Cholesteryl ester storage disease
Name: |
Cholesteryl ester storage disease
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Description: |
A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.
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ORPHAcode: |
75234
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Synonyms: |
Cholesterol ester storage disease
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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