Article
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
Molecular genetics and metabolism - 1 Dec 2007
McCready M E, Carson N L, Chakraborty P, Clarke J T R, Callahan J W, Skomorowski M A, Chan A K J, Bamforth F, Casey R, Rupar C A, Geraghty M T
Abstract excerpt
Glycogen storage disease, type II (GSDII; Pompe disease; acid maltase deficiency) is an autosomal recessive disease caused by mutations of the GAA gene that lead to deficient acid alpha-glucosidase enzyme activity and accumulation of lysosomal glycogen. Although measurement of acid alpha-glucosidase enzyme activity in fibroblasts remains the gold standard for the diagnosis of GSDII, analysis of the GAA gene...
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