Type IV glycogenosis. Patient with absence of a branching enzyme alpha-1,4-glucan:alpha-1,4-glucan 6-glycosyl transferase.
D002675:Child, Preschool; D005260:Female; D005964:Glucosyltransferases; D006003:Glycogen; D006008:Glycogen Storage Disease / Q000201:enzymology* / Q000473:pathology; D006029:Glycosuria; D006651:Histocytochemistry; D006801:Humans; D008099:Liver / Q000473:pathology*; D008103:Liver Cirrhosis / Q000473:pathology*; D008854:Microscopy, Electron; D009206:Myocardium / Q000473:pathology*; D013163:Splenomegaly / Q000473:pathology
D006003:Glycogen; D005964:Glucosyltransferases