Niemann-Pick Diseases

Known as: LIPIDOSIS, SPHINGOMYELIN, neimann-pick disease, sphingomyelinase deficiency 
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be… (More)
National Institutes of Health

Papers overview

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Highly Cited
2011
Highly Cited
2011
Ebola virus (EboV) is a highly pathogenic enveloped virus that causes outbreaks of zoonotic infection in Africa. The clinical… (More)
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Review
2011
Review
2011
Increased blood cholesterol is an independent risk factor for atherosclerotic cardiovascular disease. Cholesterol homeostasis in… (More)
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2007
2007
BACKGROUND Lung involvement in children with Niemann-Pick disease has rarely been studied systematically. OBJECTIVE To assess… (More)
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Highly Cited
2006
Highly Cited
2006
Niemann-Pick C1 like 1 (NPC1L1) is a protein critical for intestinal cholesterol absorption. The nuclear receptors peroxisome… (More)
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Highly Cited
2005
Highly Cited
2005
Ezetimibe is a potent inhibitor of cholesterol absorption that has been approved for the treatment of hypercholesterolemia, but… (More)
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Highly Cited
2004
Highly Cited
2004
Niemann-Pick C1 Like 1 (NPC1L1) is a protein localized in jejunal enterocytes that is critical for intestinal cholesterol… (More)
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Highly Cited
2000
Highly Cited
2000
Niemann-Pick C1 (NPC1) disease is characterized by cholesterol accumulation in lysosomes and aberrant feedback regulation of… (More)
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Highly Cited
2000
Highly Cited
2000
The Niemann-Pick C1 (NPC1) protein is predicted to be a polytopic glycoprotein, and it contains a region with extensive homology… (More)
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Highly Cited
1987
Highly Cited
1987
One characteristic of type C Niemann-Pick (NPC) disease is the substantial intracellular accumulation of unesterified cholesterol… (More)
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Highly Cited
1985
Highly Cited
1985
The demonstration of a defect of cholesterol esterification in a mutant strain of BALB/c mice with an attendant reduction of… (More)
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