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Journal of Perinatal Medicine

Official Journal of the World Association of Perinatal Medicine

Editor-in-Chief: Dudenhausen, MD, FRCOG, Joachim W.

Ed. by Bancalari, Eduardo / Chappelle, Joseph / Chervenak, Frank A. / D'Addario , Vincenzo / Genc, Mehmet R. / Greenough, Anne / Grunebaum, Amos / Konje, Justin C. / Kurjak M.D., Asim / Romero, Roberto / Zalud, MD PhD, Ivica

IMPACT FACTOR 2018: 1.361
5-year IMPACT FACTOR: 1.578

CiteScore 2018: 1.29

SCImago Journal Rank (SJR) 2018: 0.522
Source Normalized Impact per Paper (SNIP) 2018: 0.602

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Volume 30, Issue 6


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

S. Noori / R. Acherman / B. Siassi / C. Luna / M. Ebrahimi / Z. Pavlova / R. Ramanathan
Published Online: 2005-06-01 | DOI: https://doi.org/10.1515/JPM.2002.081


We report a term infant with Pompe disease presenting in the immediate newborn period. The infant was born at 40 weeks gestation, weighing 3600 g to a 32 year-old black female. Infant presented at delivery with massive hypertrophic cardiomyopathy and pulmonary hypertension. Diagnosis was confirmed by low α-glucosidase activity. The histopathology and electron microscopic findings were consistent with Pompe disease. This is the second reported case of Pompe disease presenting at delivery.

About the article

Published Online: 2005-06-01

Published in Print: 2002-12-03

Citation Information: Journal of Perinatal Medicine, Volume 30, Issue 6, Pages 517–521, ISSN (Print) 0300-5577, DOI: https://doi.org/10.1515/JPM.2002.081.

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