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…

Elevation of plasma lysosphingomyelin-509 and urinary bile acid

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

Niemann- Pick Disease Type C (NPC) Market Report 2023-2033

Psychiatric and Cognitive Symptoms Associated with Niemann-Pick

What is Niemann Pick Type C - Race for Adam

Understanding the phenotypic variability in Niemann-Pick disease

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

PDF] Niemann-Pick Type C Disease—Pathophysiology and Future

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

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

Niemann-Pick Disease Type C

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Niemann-Pick Disease Type C – EffRx

Potential treatment for Niemann-Pick type C, a rare