Lysossomal acid lipase activity in dried blood spots - preliminar results

Gaspar, Paulo; Alves, Sandra; Vilarinho, Laura

http://hdl.handle.net/10400.18/5526

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Authors

Gaspar, Paulo

Alves, Sandra

Vilarinho, Laura

Abstract(s)

Lysosomal storage diseases (LSDs) are a group of heterogeneous and multisystemic disorders caused by defects in enzymes responsible for the intralysosomal degradation of particular compounds. One of them is Lysosomal Acid Lipase Deficiency (LALD) that is caused by the deficiency of the enzyme Lysosomal Acid Lipase (LAL), which is responsible for the hydrolysis of cholesterol esters and triglycerides in the lysosome.