A rare presentation of Pompe disease with massive hypertrophic cardiomyopathy at birth

Journal of Perinatal Medicine

Volumn 30, Issue 6, 2002, Pages 517-521

  Noori, Shahab ^a   Acherman, Ruben ^b   Siassi, Bijan ^a   Luna, Carlos ^b   Ebrahimi, Mahmood ^b   Pavlova, Zdena ^a   Ramanathan, Rangasamy ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b WOMEN S AND CHILDREN S HOSPITAL   (United States)

Author keywords

glucosidase; Cardiomegaly; Glycogen storage disease; Hypertrophic cardiomyopathy; Neonate; Pompe

Indexed keywords

ADULT; ARTICLE; CASE REPORT; DISEASE SEVERITY; ELECTRON MICROSCOPY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENETIC DISORDER; GLYCOGEN STORAGE DISEASE TYPE 2; HISTOPATHOLOGY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; NEWBORN; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RACE;

ADULT; CARDIOMYOPATHY, HYPERTROPHIC; DIAGNOSIS, DIFFERENTIAL; ELECTROCARDIOGRAPHY; FATAL OUTCOME; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT, NEWBORN; PREGNANCY;

EID: 12244292693     PISSN: 03005577     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPM.2002.081     Document Type: Article

References (13)

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