Background Several scales have been developed in the past two decades to evaluate
Niemann–Pick disease Type C (NPC) severity in clinical practice and trials. However, a lack …

Abstract Background Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage
disorder with varying symptomatology depending on the age of onset. The diagnosis of NP …

Abstract Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive
disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes …

Abstract Background Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage
disorder characterized by progressive neurodegenerative symptomatology. The signs and …

Abstract Background Niemann-Pick disease type C (NPC) is a lysosomal storage disease
with a heterogeneous neurodegenerative clinical course. Multiple therapies are in clinical …

Abstract Background Niemann-Pick disease Type C (NP-C) is difficult to diagnose due to
heterogeneous and nonspecific clinical presentation. The NP-C Suspicion Index (SI) was …

Niemann–Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by
mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases) …

Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired
intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in …

Abstract Background Niemann-Pick disease type C (NPC) is an ultra-rare, progressive,
genetic disease leading to impaired lysosomal function and neurodegeneration causing …

Abstract Background: The Niemann-Pick disease Type C (NP-C) Suspicion Index (SI)
identifies patients warranting testing for NP-C. Risk prediction scores (RPS) are based on …