Cholesteryl ester storage disease: case report during childhood.
作者信息
Akçören Z, Göğüş S, Koçak N, Gürakan F, Ozen H, Yüce A
机构信息
Pediatric Pathology Unit, Hacettepe University Children's Hospital, 06100 Ankara, Turkey.
出版信息
Pediatr Dev Pathol. 1999 Nov-Dec;2(6):574-6. doi: 10.1007/s100249900164.
PMID:10508882
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.
摘要
Zotero 插件