Hypertrophic Cardiomyopathy in Infantile-Onset Pompe Disease Treated with Enzyme Replacement Therapy

Author(s):  
Sabena F. Hussain ◽  
Gabrielle Geddes ◽  
Marcus Schamberger ◽  
John Parent
2013 ◽  
Vol 25 (1) ◽  
pp. 146-148
Author(s):  
John J. Parent ◽  
Marcus Schamberger

AbstractInfantile Pompe disease is a rare inborn error of metabolism characterized by severe hypertrophic cardiomyopathy and generalised hypotonia occurring in infancy. We present a case of an infant with severe hypertrophic cardiomyopathy that resolved after treatment with enzyme replacement therapy.


2005 ◽  
Vol 36 (02) ◽  
Author(s):  
M Smitka ◽  
M von der Hagen ◽  
A Kaindl ◽  
C Gilitzer ◽  
J Dumontier ◽  
...  

2018 ◽  
Vol 123 (2) ◽  
pp. S124-S125
Author(s):  
Roberto Sandobal Pacheco ◽  
Diana Espinosa Villanueva ◽  
Adriana Alcnatara Salinas ◽  
Jorge A. Romero Ramirez ◽  
Jose Antonio Vasquez Galeana ◽  
...  

2012 ◽  
Vol 44 (5) ◽  
pp. 771-775 ◽  
Author(s):  
MAURO MARZORATI ◽  
SIMONE PORCELLI ◽  
BARBARA REGGIORI ◽  
LUCIA MORANDI ◽  
BRUNO GRASSI

2006 ◽  
Vol 8 (5) ◽  
pp. 297-301 ◽  
Author(s):  
Annette K Ansong ◽  
Jennifer S Li ◽  
Eva Nozik-Grayck ◽  
Richard Ing ◽  
Richard M Kravitz ◽  
...  

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