Niemann-Pick disease type C

Niemann-Pick disease type C is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by impaired cellular trafficking of cholesterol and sphingolipids and caused by mutations in either the NPC1 or NPC2 gene. The age of presentation is highly variable, ranging from the…

NNPDF on X: October is Global Niemann-Pick Disease Awareness

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Niemann–Pick disease type C1 (NPC1) is associated with early-onset

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