Acid α-glucosidase (GAA) activity in fibroblast of a dried blood sample is the gold standard test for the diagnosis of glycogen storage disease type 2. Decreased activity of GAA in fibroblasts a dried blood sample is confirmatory of glycogen storage disease type 2.
Glycogen storage disease type II diagnostic study of choice
Glycogen storage disease type III diagnostic study of choice
Glycogen storage disease type I diagnostic study of choice
Glycogen storage disease type II other diagnostic studies
Glycogen storage disease type I other diagnostic studies
Glycogen storage disease type III other diagnostic studies
Glycogen storage disease type I other imaging findings
Glycogen storage disease type II other imaging findings