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Items for "glycogen storage disease type III"

Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III

Background: Glycogen storage disease type III (GSD-III) is an inborn error of glycogen metabolism caused by a deficiency of the glycogen debranching enzyme, amylo-1,6-glucosidase,4-?-glucanotransferase (AGL)...

Keywords: AGL gene, amylo-1,6-glucosidase,4-?-glucanotransferase (AGL), glycogen storage disease type III, Korean, mutation

09/2008 | Clinical Chemical Laboratory Medicine, Walter de Gruyter