| Literature DB >> 10508882 |
Z Akçören1, S Göğüş, N Koçak, F Gürakan, H Ozen, A Yüce.
Abstract
Cholesteryl ester storage disease (CESD) is rare and characterized by accumulation of cholesteryl esters and triglycerides in many tissues due to the deficiency of lysosomal acid lipase. We report a 3(1/2)-year-old child with CESD. The diagnosis was indicated by liver biopsy and confirmed by reduced acid lipase activity in leukocytes.Entities:
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Year: 1999 PMID： 10508882 DOI： 10.1007/s100249900164
Source DB: PubMed Journal: Pediatr Dev Pathol ISSN： 1093-5266