Novel GAA mutations in patients with Pompe disease
Keywords: EDTA، اتیلن دیامین تتراسیتات; PD, Pompe disease; GAA, acid alpha-glucosidase; EDTA, ethylene diamine tetraacetate; PCR, polymerase chain reaction; DBS, dried blood spots on filter paper; NaG/AaGIA, neutral and lysosomal isoforms; %INH, percent inhibition of the total acid fraction; PA