The use of leucocytes as an aid in the diagnosis of a variant of glycogen storage disease type II (Pompe's disease).
D006332:Cardiomegaly; D004187:Disaccharides; D004586:Electrophoresis; D005632:Fructose; D005947:Glucose; D005959:Glucosidases / Q000032:analysis* / Q000037:antagonists & inhibitors / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006331:Heart Diseases / Q000175:diagnosis*; D006579:Heterozygote; D006801:Humans; D007962:Leukocytes / Q000201:enzymology*; D013577:Syndrome
D004187:Disaccharides; D005632:Fructose; D005959:Glucosidases; D005947:Glucose