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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… 
National Institutes of Health

Related topics

Related topics

11 relations
In BloodLIPA geneMicrobiologicalchemically induced

Broader (2)

LipoidosisLysosomal Storage Diseases

Narrower (1)

Wolman Disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Lysosomal acid lipase A and the hypercholesterolaemic phenotype
Purpose of review Mutations in lysosomal acid lipase A (LIPA) result in two phenotypes depending on the extent of lysosomal acid… 
2012
2012
Orthotopic liver transplantation in an adult with cholesterol ester storage disease.
Cholesterol ester storage disease (CESD) is a rare autosomal recessive lipid storage disorder associated with mutations of the… 
Highly Cited
2009
Highly Cited
2009
Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.
Review
2008
Review
2008
Cholesterol Ester Storage Disease (CESD) Diagnosed in an Asymptomatic Adult
Cholesterol ester storage disease (CESD) is a rare, autosomal-recessive, lysosomal storage disorder. It is characterized by… 
2000
2000
Accumulated lipids, aberrant fatty acid composition and defective cholesterol ester hydrolase activity in cholesterol ester storage disease
We confirmed accumulation of glycogen and lipids, particularly cholesterol esters, in the liver of a patient with cholesterol… 
Highly Cited
2000
Highly Cited
2000
Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer.
Highly Cited
1998
Highly Cited
1998
Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage.
Lysosomal acid lipase (LAL) is essential for the hydrolysis of the triglycerides and cholesteryl esters in lysosomes. Its… 
1984
1984
Cholesterol ester storage disease and mesenteric lipodystrophy.
Cholesterol ester storage disease is a rare, inherited metabolic disorder of lipid associated with acid cholesteryl ester… 
Highly Cited
1975
Highly Cited
1975
Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein. Observations in cultured fibroblasts from a patient with cholesteryl ester storage disease.
Highly Cited
1972
Highly Cited
1972
Deficient Activity of Hepatic Acid Lipase in Cholesterol Ester Storage Disease
Absence of lysosomal acid lipase activity in the liver is described in cholesterol ester storage disease and Wolman's disease… 
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