Cholesteryl Ester Storage Disease – A Rare Presentation
Madhabi Karmaker, Sarmin Akter, Ahmedul Kabir, Khan Abul Kalam Azad et autres
Cholesteryl Ester Storage Disease (CESD) is a rare genetic disease characterized by accumulation of cholesteryl esters and triglycerides in many tissues due to deficiency of Lysosomal Acid Lipase (LAL/ LIPA) enzyme, which is essential for hydrolysis of triglycerides and cholesterol esters in …
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