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 disease

Adult onset Niemann-Pick disease type C presenting with psychosis

Niemann-Pick disease type C symptomatology: an expert-based

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

Patient with Niemann-Pick disease type C: over 20 years' follow-up

mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient

Progression of Niemann–Pick type C disease in mice and humans

Main therapies and point of action in Niemann type C disease

Niemann-Pick disease type C-presenting as persistent neonatal