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…

Lipid trafficking defects in Niemann-Pick type C disease

Consensus clinical management guidelines for Niemann-Pick disease

Niemann-Pick Disease, Type C2

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Oxidative Stress: A Pathogenic Mechanism for Niemann-Pick Type C

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

What is Niemann Pick Type C - Race for Adam

Niemann-Pick disease type C: Video & Anatomy

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

Niemann-Pick disease type C-presenting as persistent neonatal

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease

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

Niemann-Pick disease type C1 is a sphingosine storage disease that