"Wolman 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.
The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.
| Descriptor ID |
D015223
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| MeSH Number(s) |
C16.320.565.398.641.201.500 C16.320.565.595.201.500 C16.614.947 C18.452.584.687.201.500 C18.452.648.398.641.201.500 C18.452.648.595.201.500
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| Concept/Terms |
Wolman Disease- Wolman Disease
- Disease, Wolman
- Acid Lipase Deficiency
- Xanthomatosis, Wolman's
- Wolman's Xanthomatosis
- Xanthomatosis, Wolman
- Xanthomatosis, Wolmans
- Liposomal Acid Lipase Deficiency, Wolman Type
- Wolman's Disease
- Disease, Wolman's
- Wolmans Disease
- Xanthomatosis, Familial
- Familial Xanthomatoses
- Xanthomatoses, Familial
- Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type
- Familial Xanthomatosis
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Below are MeSH descriptors whose meaning is more general than "Wolman Disease".
Below are MeSH descriptors whose meaning is more specific than "Wolman Disease".
This graph shows the total number of publications written about "Wolman Disease" by people in this website by year, and whether "Wolman Disease" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Wolman Disease" by people in Profiles.
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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.
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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.