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Two cases of cholesteryl ester storage disease (CESD) acid lipase deficiency.

Abstract
The deficiency of lysosomal acid lipase is expressed in two phenotypes: Wolman's disease and cholesteryl ester storage disease (CESD), which is more benign and rare. We report two cases of cholesteryl ester storage disease; we emphasize the clinical heterogeneity and present the EM picture of the conjunctiva with cholesteryl esters stored in the lysosomes.
AuthorsA Tylki-Szymanska, D Maciejko, B Wozniewicz, B Muszynska
JournalHepato-gastroenterology (Hepatogastroenterology) Vol. 34 Issue 3 Pg. 98-9 (Jun 1987) ISSN: 0172-6390 [Print] Greece
PMID3610021 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Cholesterol Esters
  • Lipase
Topics
  • Biopsy
  • Child
  • Child, Preschool
  • Cholesterol Esters (metabolism)
  • Conjunctiva (pathology)
  • Female
  • Humans
  • Lipase (deficiency)
  • Lipid Metabolism, Inborn Errors (pathology)
  • Lysosomes (ultrastructure)
  • Male
  • Microscopy, Electron

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