355 top medical experts on Type C Niemann-Pick Disease across 39 countries and 28 U.S. states, including 220 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Type C Niemann-Pick Disease: 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 the NPC1 gene, which encodes a protein that mediates 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.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Broader Categories (#Experts): Niemann-Pick Diseases (596).
- Clinical Trials : at least 50 including 11 Active, 20 Completed, 6 Recruiting
- Synonyms: Niemann-Pick Disease Type C, Type D Niemann-Pick Disease, Niemann-Pick Type C Disease, Niemann-Pick Type D Disease
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