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…

Consensus clinical management guidelines for Niemann-Pick disease

Elevation of plasma lysosphingomyelin-509 and urinary bile acid

Anesthetic consideration of Niemann-Pick Disease type C

Potential treatment for Niemann-Pick type C, a rare

Niemann-Pick Disease Type C

Niemann-Pick disease type C Alzheimer Society of Canada

Frontiers Adult-Onset Niemann–Pick Disease Type C: Rapid

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

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease

Molecular mechanism(s) of neurodegeneration in Niemann-Pick type C

Adult onset Niemann-Pick disease type C presenting with psychosis

Recommendations on the diagnosis and management of Niemann-Pick

Laboratory diagnosis of Niemann-Pick disease type C: the filipin

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