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Niemann-Pick Disease, Type A

Known as: Lipidosis, Sphingomyelin, Lipidoses, Neuronal Cholesterol, Cholesterol Lipidoses, Neuronal 
The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of… Expand
National Institutes of Health

Related topics

Related topics

21 relations
Autosomal recessive inheritanceConstipationFailure to ThriveIn Blood
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Broader (2)

LipoidosisNiemann-Pick Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2010
Review
2010
Niemann-Pick disease type C
  • 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… Expand
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Highly Cited
2008
Highly Cited
2008
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium
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
The adult form of Niemann-Pick disease type C.
Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from… Expand
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Review
2005
Review
2005
Role of cholesterol and lipid organization in disease
Membrane lipids are essential for biological functions ranging from membrane trafficking to signal transduction. The composition… Expand
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Highly Cited
2001
Highly Cited
2001
Critical role for glycosphingolipids in Niemann-Pick disease type C
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
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.
In healthy individuals, acute changes in cholesterol intake produce modest changes in plasma cholesterol levels. A striking… Expand
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Highly Cited
1998
Highly Cited
1998
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and… Expand
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Highly Cited
1997
Highly Cited
1997
Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.
An integrated human-mouse positional candidate approach was used to identify the gene responsible for the phenotypes observed in… Expand
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Highly Cited
1995
Highly Cited
1995
Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease
Types A and B Niemann–Pick disease (NPD) result from the deficient activity of acid sphingomyelinase (ASM). An animal model of… Expand
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Review
1986
Review
1986
A receptor-mediated pathway for cholesterol homeostasis.
In 1901 a physician, Archibald Garrod, observed a patient with black urine. He used this simple observation to demonstrate that a… Expand
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