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Pompe disease, also known as glycogen storage disease type II or acid maltase deficiency, is a relatively rare lysosomal storage disorder caused by an inherited mutation in the lysosomal enzyme alpha-glucosidase (GAA).
Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease.
Novel mutations in African American patients with glycogen storage disease type II [Mutations in Brief no.