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Niemann-Pick Disease, Type C

"Niemann-Pick Disease, Type C" 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.

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An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.


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This graph shows the total number of publications written about "Niemann-Pick Disease, Type C" by people in this website by year, and whether "Niemann-Pick Disease, Type C" was a major or minor topic of these publications.
Bar chart showing 5 publications over 3 distinct years, with a maximum of 2 publications in 2016 and 2018
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