Cholesteryl Ester Storage Disease
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Learn About Cholesteryl Ester Storage Disease

What is the definition of Cholesteryl Ester Storage Disease?
Cholesteryl ester storage disease is is a type of lysosomal acid lipase deficiency. It is an inherited disease that causes a buildup of fats (lipids) in the tissues and organs of the body and calcium deposits in the adrenal glands. The liver is most severely affected in most cases. Some people with Cholesteryl ester storage disease may develop liver cirrhosis that progresses to liver failure. People with Cholesteryl ester storage disease may also build up fatty deposits on the artery walls (atherosclerosis). This buildup can narrow the arteries and increase the risk for heart attack or stroke. Cholesteryl ester storage disease is caused by genetic changes in the LIPA gene. It is inherited in an autosomal recessive manner.
What are the alternative names for Cholesteryl Ester Storage Disease?
  • Cholesteryl ester storage disease
  • CESD
  • Cholesterol ester hydrolase deficiency
  • Cholesterol ester storage disease
Who are the top Cholesteryl Ester Storage Disease Local Doctors?
Elite in Cholesteryl Ester Storage Disease
Medical Genetics | Pediatrics
Elite in Cholesteryl Ester Storage Disease
Medical Genetics | Pediatrics
2300 Childrens Plaza, 
Chicago, IL 
Languages Spoken:
English

Barbara Burton is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Chicago, Illinois. Dr. Burton is rated as an Elite provider by MediFind in the treatment of Cholesteryl Ester Storage Disease. She is also highly rated in 24 other conditions, according to our data. Her clinical expertise encompasses Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Phenylketonuria (PKU), Mucopolysaccharidoses (MPS), and Cholesteryl Ester Storage Disease.

Elite in Cholesteryl Ester Storage Disease
Elite in Cholesteryl Ester Storage Disease
Turin, IT 

Ornella Guardamagna practices practicing medicine in Turin, Italy. Ms. Guardamagna is rated as an Elite expert by MediFind in the treatment of Cholesteryl Ester Storage Disease. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Cholesteryl Ester Storage Disease, Wolman Disease, Lysosomal Acid Lipase Deficiency, and High Cholesterol.

 
 
 
 
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Elite in Cholesteryl Ester Storage Disease
Elite in Cholesteryl Ester Storage Disease
Paris, FR 

Anais Brassier practices practicing medicine in Paris, France. Ms. Brassier is rated as an Elite expert by MediFind in the treatment of Cholesteryl Ester Storage Disease. She is also highly rated in 34 other conditions, according to our data. Her clinical expertise encompasses Wolman Disease, Lysosomal Acid Lipase Deficiency, Cholesteryl Ester Storage Disease, Kidney Transplant, and Liver Transplant.

What are the latest Cholesteryl Ester Storage Disease Clinical Trials?
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Registry of Patients Diagnosed With Lysosomal Storage Diseases

Summary: This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.

Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center