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…

Health Tip on New Treatment that Shows Promise in Niemann-Pick

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

Mitochondrial GSH replenishment as a potential therapeutic

Miglustat in Niemann-Pick disease type C patients: a review

Niemann-Pick disease Type C - causes, symptoms, diagnosis

mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient

Niemann-Pick disease type C Orphanet Journal of Rare Diseases

Niemann-Pick disease type C-presenting as persistent neonatal

Molecular mechanism(s) of neurodegeneration in Niemann-Pick type C

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