Colorado PROFILES, The Colorado Clinical and Translational Sciences Institute (CCTSI)
Keywords
Last Name
Institution

Contact Us
If you have any questions or feedback please contact us.

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.

expand / collapse MeSH information
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.


expand / collapse publications
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 2021
To see the data from this visualization as text, click here.

Copyright © 2022 The Regents of the University of Colorado, a body corporate. All rights reserved. (Harvard PROFILES RNS software version: 2.11.1)