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Genetics in Medicine
Purpose: The study's purpose was to compare acarbose and maltose as inhibitors of maltase-glucoamylase activity for determining acid ␣-glucosidase activity in dried blood spot specimens for early identification of patients with infantile Pompe disease, a severe form of acid ␣-glucosidase deficiency. Methods: Acid ␣-glucosidase activities in dried blood spot extracts were determined fluorometrically using the artificial substrate 4-methylumbelliferyl-␣-D-pyranoside. Acarbose or maltose was useddoi:10.1097/01.gim.0000217781.66786.9b pmid:16702880 fatcat:2ryasbp4afgatdxhwtfczmco4q