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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.

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http://dx.doi.org/10.1007/s100249900164DOI Listing

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