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Niemann-Pick Disease, Type C1

Known as: NPC1, Niemann Pick disease, Subacute Juvenile Form, Niemann-Pick disease, Subacute Juvenile Form 
Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.
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
2011
Highly Cited
2011
Ebola virus (EboV) is a highly pathogenic enveloped virus that causes outbreaks of zoonotic infection in Africa. The clinical… Expand
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Review
2010
Review
2010
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of… Expand
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Highly Cited
2010
Highly Cited
2010
Oxysterols are biomarkers for diagnosis and drug treatment in Niemann-Pick C1 disease. Turning the Tables on Cholesterol A big… Expand
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Highly Cited
2009
Highly Cited
2009
Niemann-Pick disease type C1 (NPC1) is a neurodegenerative lysosomal disorder characterized by sphingolipid and cholesterol… 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
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
1997
Highly Cited
1997
Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by lysosomal accumulation of low density… 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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