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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… 
National Institutes of Health

Related topics

Related topics

21 relations
Autosomal recessive inheritanceConstipationFailure to ThriveIn Blood

Broader (2)

LipoidosisNiemann-Pick Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
Consensus clinical management guidelines for Niemann-Pick disease type C
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1… 
Highly Cited
2014
Highly Cited
2014
High sphingomyelin levels induce lysosomal damage and autophagy dysfunction in Niemann Pick disease type A
Niemann Pick disease type A (NPA), which is caused by loss of function mutations in the acid sphingomyelinase (ASM) gene, is a… 
Highly Cited
2010
Highly Cited
2010
MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein
Niemann-Pick Type C (NPC) disease is a fatal, neurodegenerative disorder, caused in most cases by mutations in the late endosomal… 
Highly Cited
2007
Highly Cited
2007
The National Niemann–Pick C1 disease database: Report of clinical features and health problems
Niemann–Pick type C1 (NPC1) disease is an autosomal recessive disorder characterized clinically by neonatal jaundice… 
Highly Cited
2006
Highly Cited
2006
Natural history of Type A Niemann-Pick disease
Objective: To describe the disease course and natural history of Type A Niemann-Pick disease (NPD). Methods: Ten patients with… 
Highly Cited
2003
Highly Cited
2003
Identification of 58 novel mutations in Niemann‐Pick disease type C: Correlation with biochemical phenotype and importance of PTC1‐like domains in NPC1
The two known complementation groups of Niemann‐Pick Type C disease, NPC1 and NPC2, result from non‐allelic protein defects. Both… 
Review
2001
Review
2001
Photosensitized oxidation of membrane lipids: reaction pathways, cytotoxic effects, and cytoprotective mechanisms.
  • A. Girotti
  • Journal of Photochemistry and Photobiology. B…
  • 2001
  • Corpus ID: 5674458
Highly Cited
1993
Highly Cited
1993
Linkage of Niemann-Pick disease type C to human chromosome 18.
We analyzed the involvement of chromosome 18 in Niemann-Pick disease type C (NPC), an autosomal recessive cholesterol-processing… 
Review
1990
Review
1990
An update of the enzymology and regulation of sphingomyelin metabolism.
Review
1961
Review
1961
THE CEREBRAL DEFECT IN TAY‐SACHS DISEASE AND NIEMANN‐PICK DISEASE *
THE nature of the functional and anatomic disturbance in the central nervous system which occurs in the constitutional syndromes… 
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