Article
The adult form of Niemann-Pick disease type C.
Brain : a journal of neurology - 1 Jan 2007
Sévin Mathieu, Lesca Gaëtan, Baumann Nicole, Millat Gilles, Lyon-Caen Olivier, Vanier Marie T, Sedel Frédéric
Abstract excerpt
Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene. The encoded proteins appear to be involved in lysosomal/late endosomal transport of cholesterol, glycolipids and other molecules but their exact function is still unknown. The clinical spectrum of the disease ranges from a neonatal...
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