 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.
| Descriptor ID |
D015217
|
| MeSH Number(s) |
C16.320.565.398.641.201 C16.320.565.595.201 C18.452.584.687.201 C18.452.648.398.641.201 C18.452.648.595.201
|
| Concept/Terms |
|
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".
This graph shows the total number of publications written about "Cholesterol Ester Storage Disease" by people in this website by year, and whether "Cholesterol Ester Storage Disease" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2013 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Cholesterol Ester Storage Disease" by people in Profiles.
-
Stitziel NO, Fouchier SW, Sjouke B, Peloso GM, Moscoso AM, Auer PL, Goel A, Gigante B, Barnes TA, Melander O, Orho-Melander M, Duga S, Sivapalaratnam S, Nikpay M, Martinelli N, Girelli D, Jackson RD, Kooperberg C, Lange LA, Ardissino D, McPherson R, Farrall M, Watkins H, Reilly MP, Rader DJ, de Faire U, Schunkert H, Erdmann J, Samani NJ, Charnas L, Altshuler D, Gabriel S, Kastelein JJ, Defesche JC, Nederveen AJ, Kathiresan S, Hovingh GK. Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2013 Dec; 33(12):2909-14.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|