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Niemann-Pick type C disease:NPC1mutations associated with severe and mild cellular cholesterol trafficking alterations

✍ 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