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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… Expand
National Institutes of Health

Papers overview

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Highly Cited
2011
Highly Cited
2011
Infections by the Ebola and Marburg filoviruses cause a rapidly fatal haemorrhagic fever in humans for which no approved… Expand
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Highly Cited
2010
Highly Cited
2010
Heat shock protein 70 (Hsp70) is an evolutionarily highly conserved molecular chaperone that promotes the survival of stressed… Expand
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Highly Cited
2008
Highly Cited
2008
Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder caused by mutations in the acidic… Expand
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Review
2007
Review
2007
Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from… Expand
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Highly Cited
2007
Highly Cited
2007
BACKGROUND Niemann-Pick type C disease (NPC) is an inherited neurodegenerative disorder characterised by an intracellular lipid… Expand
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Highly Cited
2004
Highly Cited
2004
Niemann-Pick disease type C (NPC) is an autosomal recessive disease, belonging to a clinically heterogeneous group of lipid… Expand
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Highly Cited
2001
Highly Cited
2001
Niemann-Pick type C (NPC) disease is a cholesterol lipidosis caused by mutations in NPC1 and NPC2 gene loci. Most human cases are… Expand
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Highly Cited
2000
Highly Cited
2000
Niemann-Pick type C2 disease (NP-C2) is a fatal hereditary disorder of unknown etiology characterized by defective egress of… Expand
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Highly Cited
1997
Highly Cited
1997
An integrated human-mouse positional candidate approach was used to identify the gene responsible for the phenotypes observed in… Expand
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Review
1995
Review
1995
Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage disorder, but the basic defect has not… Expand
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