Article
Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.
Molecular genetics and metabolism - 1 Jun 2009
Pisciotta Livia, Fresa Raffaele, Bellocchio Antonella, Pino Elisabetta, Guido Virgilia, Cantafora Alfredo, Di Rocco Maja, Calandra Sebastiano, Bertolini Stefano
Abstract excerpt
Cholesteryl Ester Storage Disease (CESD) is a rare recessive disorder due to mutations in LIPA gene encoding the lysosomal acidic lipase (LAL). CESD patients have liver disease associated with mixed hyperlipidemia and low plasma levels of high-density lipoproteins (HDL). The aim of this study was the molecular characterization of three patients with CESD. LAL activity was measured in blood leukocytes. In two...
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