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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
2007
Review
2007
New insights into the role of HDL as an anti-inflammatory agent in the prevention of cardiovascular disease
Several known functions of high-density lipoproteins (HDLs) may contribute to their ability to protect against atherosclerosis… 
Highly Cited
2002
Highly Cited
2002
Successful treatment of endogenous lipoid pneumonia due to Niemann-Pick Type B disease with whole-lung lavage.
In Type B Niemann-Pick disease, progressive pulmonary infiltration is a major cause of morbidity and mortality, although the… 
Highly Cited
1995
Highly Cited
1995
Characterization of endothelial cell injury by cholesterol oxidation products found in oxidized LDL.
The present study describes the toxicity of oxidized LDL towards rabbit aortic endothelial cells in terms of its lipid components… 
Highly Cited
1983
Highly Cited
1983
Evidence for a potent nucleating factor in the gallbladder bile of patients with cholesterol gallstones
Highly Cited
1981
Highly Cited
1981
Thermodynamic and molecular basis for dissimilar cholesterol-solubilizing capacities by micellar solutions of bile salts: cases of sodium chenodeoxycholate and sodium ursodeoxycholate and their…
The bile salts chenodeoxycholate (CDC) and its 7 beta-hydroxy epimer ursodeoxycholate (UDC) are administered therapeutically (as… 
Highly Cited
1980
Highly Cited
1980
Mechanism of cholesterol efflux from cells
Review
1975
Review
1975
A REVIEW ON NEUROSECRETORY GRANULES: THEIR CONTENTS AND MECHANISMS OF RELEASE
The available evidence suggests that hormones and neurophysins are associated exclusively with the neurosecretory granules, each… 
Highly Cited
1974
Highly Cited
1974
Spectral properties of rat adrenal-mitochondrial cytochrome P-450.
Difference spectra produced by the binding of steroids to rat adrenal-mitochondrial cytochrome P-450 indicate distinct… 
Highly Cited
1973
Highly Cited
1973
Cholesterol Hydroperoxide Formation in Red Cell Membranes and Photohemolysis in Erythropoietic Protoporphyria
3β-Hydroxy-5α-hydroperoxy-Δ6-cholestene is produced in protoporphyrin-containing red blood cell ghosts irradiated with… 
Highly Cited
1969
Highly Cited
1969
Infantile Niemann-Pick disease. A chemical study with isolation and characterization of membranous cytoplasmic bodies and myelin.
NIEMANN-Pick disease is an inborn error of lipid metabolism characterized by abnormal accumulation of sphingomyelin in various… 
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