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-presenting as persistent neonatal

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

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Niemann-Pick disease type C. The diagram represents subtypes and

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

Fig 2. Subcortical Volumetric Reductions in Adult Niemann-Pick

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Elevation of plasma lysosphingomyelin-509 and urinary bile acid

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