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Niemann-Pick Disease, Type A

"Niemann-Pick Disease, Type A" 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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The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.


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This graph shows the total number of publications written about "Niemann-Pick Disease, Type A" by people in this website by year, and whether "Niemann-Pick Disease, Type A" was a major or minor topic of these publications.
Bar chart showing 1 publications over 1 distinct years, with a maximum of 1 publications in 2008
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