Molecular basis and clinical management of Gaucher disease

Molecular basis and clinical management of Gaucher disease

Gaucher disease (GD) type I is an autosomal recessive disease caused by a genetic deficiency of lysosomal &beta;-glucocerebrosidase that leads to accumulation of undergraded substrate glucocerebroside and other glycolipids, thus causing damage in different organs. <em>GBA</em> is the...

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Bibliographic Details
Main Authors: Maja Di Rocco, Andrea Loggini, Pierluigi Russo
Format: Article
Language:English
Published: MDPI AG 2013-02-01
Series:Cardiogenetics
Subjects:
Gaucher disease, heart in Gaucher disease, genetics of Gaucher disease, lysosomal disease.
Online Access:http://www.pagepressjournals.org/index.php/cardiogen/article/view/904

Internet

http://www.pagepressjournals.org/index.php/cardiogen/article/view/904

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