The Metabolism of Sphingomyelin, II. Evidence of an Enzymatic Deficiency in Niemann-Pick Disease
✍ Scribed by Roscoe O. Brady, Julian N. Kanfer, Michael B. Mock and Donald S. Fredrickson
- Book ID
- 123647441
- Publisher
- National Academy of Sciences
- Year
- 1966
- Tongue
- English
- Weight
- 536 KB
- Volume
- 55
- Category
- Article
- ISSN
- 0027-8424
- DOI
- 10.2307/57530
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📜 SIMILAR VOLUMES
Sphingomyelin is an important lipid component of cell membranes and lipoproteins that can be hydrolyzed by sphingomyelinases into ceramide and phosphorylcholine. The Type A and B forms of Niemann-Pick disease (NPD) are lipid storage disorders due to the deficient activity of the enzyme acid sphingom
## Abstract Niemann‐Pick type C1 (NPC1) disease is an autosomal‐recessive cholesterol‐storage disorder characterized by liver dysfunction, hepatosplenomegaly, and progressive neurodegeneration. The NPC1 gene is expressed in every tissue of the body, with liver expressing the highest amounts of NPC1