Very early presentation of Pompe's disease and its cross-sectional echocardiographic features.
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.
Lorber
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Department of Pediatrics, Lady Davis Carmel Hospital, Haifa, Israel.
Luder
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AS
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
D000520:alpha-Glucosidases