Cholesterol Ester Storage Disease
"Cholesterol Ester Storage Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.
Below are MeSH descriptors whose meaning is more general than "Cholesterol Ester Storage Disease".
Below are MeSH descriptors whose meaning is more specific than "Cholesterol Ester Storage Disease".
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Below are the most recent publications written about "Cholesterol Ester Storage Disease" by people in Profiles.
Helderman RC, Whitney DG, Duta-Mare M, Akhmetshina A, Vujic N, Jayapalan S, Nyman JS, Misra BB, Rosen CJ, Czech MP, Kratky D, Rendina-Ruedy E. Loss of function of lysosomal acid lipase (LAL) profoundly impacts osteoblastogenesis and increases fracture risk in humans. Bone. 2021 07; 148:115946.
Du H, Levine M, Ganesa C, Witte DP, Cole ES, Grabowski GA. The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy. Am J Hum Genet. 2005 Dec; 77(6):1061-74.