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 type C Orphanet Journal of Rare Diseases

Niemann-Pick Disease, Type C2

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

IJMS, Free Full-Text

Niemann-Pick Disease Type C – EffRx

Lipid trafficking defects in Niemann-Pick type C disease

Niemann–Pick Disease Type C

5 Most Promising Companies offering hope to patients with Niemann

Health Tip on New Treatment that Shows Promise in Niemann-Pick

Mitochondrial dysfunction in fibroblasts derived from patients

Elevation of plasma lysosphingomyelin-509 and urinary bile acid

Two-Year-Old Kamryn Living with Niemann-Pick Disease Type C (NPC

Parents of kids with Niemann Pick C advocate for adrabetadex

Niemann–Pick type C disease: cellular pathology and

Niemann-Pick-C desease - CERMO-FC