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Cholesterol Ester Storage Disease

Known as: Cholesterol Ester Storage Disease [Disease/Finding], Cholesteryl Ester Storage Disease 
An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral… Expand
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
Objective—Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low… Expand
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Highly Cited
2011
Highly Cited
2011
ATP-binding cassette transporter A1 (ABCA1) mediates the rate-limiting step in high density lipoprotein (HDL) particle formation… Expand
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Highly Cited
1999
Highly Cited
1999
Mechanisms producing the divergent phenotypes, Wolman disease (WD) and cholesterol ester storage disease (CESD), associated with… Expand
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Highly Cited
1999
Highly Cited
1999
We previously described a Sardinian family in which the probands had a severe form of hypercholesterolemia, suggestive of… Expand
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Highly Cited
1998
Highly Cited
1998
Lysosomal acid lipase (LAL) is essential for the hydrolysis of the triglycerides and cholesteryl esters in lysosomes. Its… Expand
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1991
1991
We administered lovastatin to two sisters, aged 4 and 17 years, who had cholesterol ester storage disease, an autosomal recessive… Expand
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Highly Cited
1991
Highly Cited
1991
Molecular cloning of a full-length cDNA for human lysosomal acid lipase/cholesteryl ester hydrolase (EC 3.1.1.13) reveals that it… Expand
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Highly Cited
1987
Highly Cited
1987
Cholesteryl ester storage disease (CESD) is characterized by the deficient activity of lysosomal cholesteryl ester (CE) hydrolase… Expand
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Highly Cited
1975
Highly Cited
1975
The hydrolysis of cholesteryl esters contained in plasma low density lipoprotein was reduced in cultured fibroblasts derived from… Expand
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1972
1972
Absence of lysosomal acid lipase activity in the liver is described in cholesterol ester storage disease and Wolman's disease… Expand
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