Absence of acid maltase in glycogenesis type 2(Pompe's disease) in tissue culture.
D001706:Biopsy; D002247:Carbon Isotopes; D006332:Cardiomegaly / Q000150:complications; D046508:Culture Techniques; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005947:Glucose / Q000378:metabolism; D005959:Glucosidases / Q000378:metabolism*; D006008:Glycogen Storage Disease / Q000201:enzymology*; D006801:Humans; D007231:Infant, Newborn; D008320:Maltose / Q000378:metabolism; D012867:Skin
D002247:Carbon Isotopes; D008320:Maltose; D005959:Glucosidases; D005947:Glucose