Niemann-Pick Disease, Type C

Known as: NPC, Niemann Pick Disease with Cholesterol Esterification Block, Niemann-Pick Disease, Chronic Neuronopathic Form 
An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1975-2017
051019752017

Papers overview

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2016
2016
INTRODUCTION Niemann-Pick type C disease (NPC) is a rare genetic disease with an extremely heterogeneous clinical presentation… (More)
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2016
2016
BACKGROUND Niemann-Pick disease type C (NP-C) is a fatal lysosomal neurodegenerative and neurovisceral disease. It is caused by… (More)
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2015
2015
Niemann-Pick disease type C (NPC) is a lysosomal storage disease characterized by abnormal accumulation of free cholesterol and… (More)
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2015
2015
In infantile and juvenile Niemann-Pick type C (NPC) disease electrophysiological studies have shown central (CNS) and peripheral… (More)
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2015
2015
Niemann-Pick type C (NPC) disease is characterized by the lysosomal accumulation of cholesterols and impaired autophagic flux due… (More)
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Review
2014
Review
2014
Alzheimer's disease (AD) and Niemann-Pick type C (NPC) disease are progressive neurodegenerative diseases with very different… (More)
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2014
2014
Niemann-Pick disease type C (NPC) is a rare neurodegenerative disorder caused by recessive mutations in the NPC1 or NPC2 gene… (More)
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2013
2013
Niemann-Pick disease type C (NP-C) is an autosomal recessive lysosomal lipid storage disorder characterized with accumulation of… (More)
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2013
2013
Niemann-Pick disease, type C (NPC) is an intractable disease that is accompanied by ataxia, dystonia, neurodegeneration, and… (More)
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1975
1975
Extract: Sphingomyelinase was obtained in excellent yield from liver and brain by homogenization with 0.05 M citrate-phosphate… (More)
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