Niemann-Pick type C disease:NPC1mutations associated with severe and mild cellular cholesterol trafficking alterations
β Scribed by Ribeiro, Isaura; Marcão, Ana; Amaral, Olga; Sá Miranda, Maria; Vanier, Marie; Millat, Gilles
- Book ID
- 113043697
- Publisher
- Springer
- Year
- 2001
- Tongue
- English
- Weight
- 90 KB
- Volume
- 109
- Category
- Article
- ISSN
- 0340-6717
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## Abstract Niemann Pick type C (NPC) disease is an autosomal recessive disorder characterized by abnormal cholesterol metabolism and accumulation in lysosomal and endosomal compartments. Although peripheral organs are affected, the progressive neurodegeneration in the brain is typically most delet