Article
Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia.
The American journal of case reports - 9 Jun 2018
Botero Verónica, Garcia Victor H, Gomez-Duarte Catalina, Aristizabal Ana M, Arrunategui Ana M, Echeverri Gabriel J, Pachajoa Harry
Abstract excerpt
BACKGROUND Lysosomal acid lipase deficiency is a rare genetic metabolic lipid storage disease, with a high morbidity, and mortality, in children and adults. It is characterized by a mutation in the LIPA gene that causes an alteration of lipid metabolism, resulting in deposits of cholesterol esters and triglycerides in organs such as the liver, blood vessels, and gastrointestinal tract. Lysosomal acid lipase...
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