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… (More)
National Institutes of Health

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

LipoidosisNiemann-Pick Diseases

Papers overview

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Highly Cited
2012
Highly Cited
2012
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by mutations in either the NPC1 (in 95% of… (More)
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Highly Cited
2010
Highly Cited
2010
Hsp70 stabilizes lysosomes and reverts Niemann–Pick disease-associated lysosomal pathology
Heat shock protein 70 (Hsp70) is an evolutionarily highly conserved molecular chaperone that promotes the survival of stressed… (More)
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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… (More)
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Review
2006
Review
2006
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… (More)
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Review
2003
Review
2003
Niemann-Pick disease type C.
Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage with a wide spectrum of clinical… (More)
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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… (More)
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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… (More)
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Review
1995
Review
1995
[Niemann-Pick disease types A and B].
  • Kosaku Ohno
  • Nihon rinsho. Japanese journal of clinical…
  • 1995
The molecular basis of Niemann-Pick disease, type A and B, has been confirmed by detection of mutations causing deficiency of the… (More)
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Highly Cited
1995
Highly Cited
1995
Neurofibrillary tangles in Niemann-Pick disease type C.
Post-mortem neuropathological examination of five cases of Niemann-Pick disease type C revealed neurofibrillary tangles in many… (More)
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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… (More)
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