Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots

by Fanny Thuriot, Elaine Gravel, Katherine Hodson, Jorge Ganopolsky, Bojana Rakic, Paula J. Waters, Serge Gravel, Sébastien Lévesque
Published 2021-08-01