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…

Niemann-Pick Type C Disease Reveals a Link between Lysosomal

Niemann-Pick-C desease - CERMO-FC

Mitochondrial G8292A and C8794T mutations in patients with Niemann

Presentations of Niemann-Pick Type C disease

Niemann Pick Disease Type C - Symptoms, Causes, Treatment

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Niemann-Pick disease type C-presenting as persistent neonatal

Niemann-Pick Disease Type C

Anesthetic consideration of Niemann-Pick Disease type C

Mitochondrial GSH replenishment as a potential therapeutic