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…

Immune dysfunction in Niemann‐Pick disease type C - Platt - 2016

Fig 1. Subcortical Volumetric Reductions in Adult Niemann-Pick

Niemann-Pick Disease Type C - cyclotherapeutics

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

Elevation of plasma lysosphingomyelin-509 and urinary bile acid

Niemann Pick disease

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

National Niemann-Pick Disease Foundation, Inc. - October is Global

Niemann-Pick disease type C as a neurovisceral disease. Schematic

The pathogenesis of Niemann–Pick type C disease: a role for

Frontiers Adult-Onset Niemann–Pick Disease Type C: Rapid

Mitochondrial GSH replenishment as a potential therapeutic