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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

Papers overview

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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… 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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Review
2005
Review
2005
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
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
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
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
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
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
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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