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Niemann-Pick Disease, Type A
Known as:
Lipidosis, Sphingomyelin
, Lipidoses, Neuronal Cholesterol
, Cholesterol Lipidoses, Neuronal
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The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of…
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National Institutes of Health
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Related topics
Related topics
21 relations
Autosomal recessive inheritance
Constipation
Failure to Thrive
In Blood
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Broader (2)
Lipoidosis
Niemann-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
P. Barter
,
R. Puranik
,
K. Rye
Current Cardiology Reports
2007
Corpus ID: 34733890
Several known functions of high-density lipoproteins (HDLs) may contribute to their ability to protect against atherosclerosis…
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Highly Cited
2002
Highly Cited
2002
Successful treatment of endogenous lipoid pneumonia due to Niemann-Pick Type B disease with whole-lung lavage.
A. Nicholson
,
A. Wells
,
J. Hooper
,
D. Hansell
,
A. Kelleher
,
C. Morgan
American Journal of Respiratory and Critical Care…
2002
Corpus ID: 40238549
In Type B Niemann-Pick disease, progressive pulmonary infiltration is a major cause of morbidity and mortality, although the…
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Highly Cited
1995
Highly Cited
1995
Characterization of endothelial cell injury by cholesterol oxidation products found in oxidized LDL.
A. Sevanian
,
H. Hodis
,
Juliana Hwang
,
L. L. McLeod
,
H. Peterson
Journal of Lipid Research
1995
Corpus ID: 17030782
The present study describes the toxicity of oxidized LDL towards rabbit aortic endothelial cells in terms of its lipid components…
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Highly Cited
1983
Highly Cited
1983
Evidence for a potent nucleating factor in the gallbladder bile of patients with cholesterol gallstones
M. Burnstein
,
R. G. Ilson
,
C. Petrunka
,
R. D. Taylor
,
S. Strasberg
1983
Corpus ID: 196218785
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…
M. Carey
,
J. Montet
,
M. Phillips
,
M. Armstrong
,
N. Mazer
Biochemistry
1981
Corpus ID: 45697442
The bile salts chenodeoxycholate (CDC) and its 7 beta-hydroxy epimer ursodeoxycholate (UDC) are administered therapeutically (as…
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Highly Cited
1980
Highly Cited
1980
Mechanism of cholesterol efflux from cells
M. Phillips
,
L. McLean
,
Genevieve W. Stoudt
,
G. Rothblat
1980
Corpus ID: 1312565
Review
1975
Review
1975
A REVIEW ON NEUROSECRETORY GRANULES: THEIR CONTENTS AND MECHANISMS OF RELEASE
J. Dreifuss
Annals of the New York Academy of Sciences
1975
Corpus ID: 25135999
The available evidence suggests that hormones and neurophysins are associated exclusively with the neurosecretory granules, each…
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Highly Cited
1974
Highly Cited
1974
Spectral properties of rat adrenal-mitochondrial cytochrome P-450.
C. Jefcoate
,
E. Simpson
,
G. S. Boyd
European Journal of Biochemistry
1974
Corpus ID: 37163183
Difference spectra produced by the binding of steroids to rat adrenal-mitochondrial cytochrome P-450 indicate distinct…
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Highly Cited
1973
Highly Cited
1973
Cholesterol Hydroperoxide Formation in Red Cell Membranes and Photohemolysis in Erythropoietic Protoporphyria
A. Lamola
,
T. Yamane
,
A. M. Trozzolo
Science
1973
Corpus ID: 33383859
3β-Hydroxy-5α-hydroperoxy-Δ6-cholestene is produced in protoporphyrin-containing red blood cell ghosts irradiated with…
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Highly Cited
1969
Highly Cited
1969
Infantile Niemann-Pick disease. A chemical study with isolation and characterization of membranous cytoplasmic bodies and myelin.
S. Kamoshita
,
A. Aron
,
K. Suzuki
A M A Journal of Diseases of Children
1969
Corpus ID: 25676515
NIEMANN-Pick disease is an inborn error of lipid metabolism characterized by abnormal accumulation of sphingomyelin in various…
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