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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
2013
Highly Cited
2013
Niemann-Pick disease, type C1 (NPC1) is an autosomal recessive lipid storage disorder in which a pathological cascade, including… 
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… 
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… 
Review
2010
Review
2010
  • M. Vanier
  • Orphanet journal of rare diseases
  • 2010
  • Corpus ID: 14753402
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of… 
Highly Cited
2010
Highly Cited
2010
Niemann-Pick type C1 disease is an autosomal-recessive lysosomal storage disorder. Loss of function of the npc1 gene leads to… 
Highly Cited
2008
Highly Cited
2008
Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder caused by mutations in the acidic… 
Highly Cited
2003
Highly Cited
2003
Niemann Pick disease type C1 (NPC1) is an inherited, autosomal recessive, lipid‐storage disorder with major neurological… 
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… 
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…