title: Glycogen storage disease type IV diagnosed biochemically. A case report.
abstract: A case report of a child with glycogen storage disease type IV is presented. The diagnosis was confirmed by enzyme assay on cultured fibroblasts. Some unusual features of this disorder are discussed and the possibility of antenatal diagnosis is emphasized.
mesh_terms: D015061:1,4-alpha-Glucan Branching Enzyme / Q000032:analysis*; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D005260:Female; D005964:Glucosyltransferases / Q000032:analysis*; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006011:Glycogen Storage Disease Type IV / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008099:Liver / Q000473:pathology; D012867:Skin / Q000032:analysis
chemical_list: D005964:Glucosyltransferases; D015061:1,4-alpha-Glucan Branching Enzyme