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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.

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.


This graph shows the total number of publications written about "Niemann-Pick Disease, Type C" by people in Harvard Catalyst Profiles by year, and whether "Niemann-Pick Disease, Type C" was a major or minor topic of these publication.
Bar chart showing 23 publications over 10 distinct years, with a maximum of 4 publications in 2016 and 2019
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.