title: Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results.
authors: Department of Pediatrics, Duke University Health System, Durham, North Carolina.
authors: Jennifer L
authors: JL
authors: Goldstein
authors: Gwen
authors: G
authors: Dickerson
authors: Priya S
authors: PS
authors: Kishnani
authors: Catherine
authors: C
authors: Rehder
authors: Deeksha S
authors: DS
authors: Bali
mesh_terms: D000293:Adolescent; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D057075:Enzyme Assays / Q000379:methods*; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007223:Infant; D017422:Sequence Analysis, DNA / Q000379:methods*; D055815:Young Adult; D000520:alpha-Glucosidases / Q000235:genetics* / Q000378:metabolism
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases