[Characterization of alpha-glucosidase in skin fibroblasts in the diagnosis of glycogenosis type 2 (Pompe disease)].
D002478:Cells, Cultured; D002648:Child; D005347:Fibroblasts / Q000201:enzymology; D006580:Genetic Carrier Screening; D005959:Glucosidases / Q000378:metabolism*; D006008:Glycogen Storage Disease / Q000201:enzymology*; D006009:Glycogen Storage Disease Type II / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D000520:alpha-Glucosidases / Q000378:metabolism*
D005959:Glucosidases; D000520:alpha-Glucosidases
Die Charakterisierung der alpha-Glukosidase in Hautfibroblasten zur Diagnostik der Glykogenose typ II (M. Pompe).