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

Niemann-Pick disease type C: Video & Anatomy

Psychiatric and Cognitive Symptoms Associated with Niemann-Pick

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

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

IJMS, Free Full-Text

Niemann-Pick disease type C

IJMS, Free Full-Text

Diagnostic workup and management of patients with suspected

Niemann–Pick disease, type C - Wikipedia