Associated Papers
Genotype-phenotype correlation in Pompe disease, a step forward.
De Filippi P et al.
Orphanet Journal of Rare Diseases, 2014
Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
Wens SC et al.
Molecular Genetics and Metabolism, 2012
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.
McCready ME et al.
Molecular Genetics and Metabolism, 2007
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