title: Very early presentation of Pompe's disease and its cross-sectional echocardiographic features.
abstract: Pompe's disease was diagnosed in a 23-day-old female infant with congestive cardiac failure and hypotonia. The cross-sectional echocardiographic features of this case are described. The possible implications of this extremely early presentation are discussed.
authors.affiliation: Department of Pediatrics, Lady Davis Carmel Hospital, Haifa, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Lorber
authors.forename: A S
authors.initials: AS
authors.lastname: Luder
mesh_terms: D004452:Echocardiography / Q000379:methods*; D005260:Female; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D009132:Muscles / Q000201:enzymology; D000520:alpha-Glucosidases / Q000032:analysis
chemical_list: D000520:alpha-Glucosidases