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… (More)
National Institutes of Health

Papers overview

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2013
2013
OBJECTIVE Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low… (More)
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2012
2012
AIMS   To identify reliable criteria with which to improve the diagnosis of lysosomal acid lipase (LAL) deficiency of the… (More)
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Review
2008
Review
2008
Cholesterol ester storage disease (CESD) is a rare, autosomal-recessive, lysosomal storage disorder. It is characterized by… (More)
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2005
2005
Cholesterol ester storage disease (CESD) is an autosomal recessive illness that results from mutations in the LIPA gene encoding… (More)
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1999
1999
Mechanisms producing the divergent phenotypes, Wolman disease (WD) and cholesterol ester storage disease (CESD), associated with… (More)
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Review
1995
Review
1995
Cholesterol ester storage disease is a rare autosomal recessive disease which is characterized by accumulation of cholesterol… (More)
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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… (More)
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1984
1984
Cholesterol ester storage disease is a rare, inherited metabolic disorder of lipid associated with acid cholesteryl ester… (More)
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1977
1977
Of three siblings affected with cholesterol ester storage disease, two died at ages 7 and 9 years, respectively, with hepatic… (More)
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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… (More)
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