Cardiac response to enzyme replacement therapy in infantile Pompe disease with severe hypertrophic cardiomyopathy

2017 ◽  
Vol 34 (4) ◽  
pp. 621-624 ◽  
Author(s):  
Sravani Avula ◽  
Thuylinh M. Nguyen ◽  
Michael Marble ◽  
Christian Lilje
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Cardiac Response ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease

Resolution of severe cardiomyopathy in infantile Pompe disease

2013 ◽  
Vol 25 (1) ◽  
pp. 146-148
Author(s):  
John J. Parent ◽  
Marcus Schamberger
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease ◽  
Rare Inborn Error

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.

scholarly journals Pulmonary outcome measures in long‐term survivors of infantile Pompe disease on enzyme replacement therapy: A case series

2020 ◽  
Vol 55 (3) ◽  
pp. 674-681
Author(s):  
Mai K. ElMallah ◽  
Ankit K. Desai ◽  
Erica B. Nading ◽  
Stephanie DeArmey ◽  
Richard M. Kravitz ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Outcome Measures ◽  
Pompe Disease ◽  
Case Series ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease ◽  
Long Term Survivors

scholarly journals Motor Development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement Therapy

2017 ◽  
Vol 07 (01) ◽  
pp. 8-19 ◽  
Author(s):  
Paula de Almeida Thomazinho ◽  
Fernanda Bertão Scalco ◽  
Maria Lúcia Costa de Oliveira ◽  
Dafne Dain Gandelman Horovitz ◽  
Juan Clinton Llerena Jr.
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Motor Development ◽  
Pompe Disease ◽  
Enzyme Replacement ◽  
Potential Marker ◽  
Infantile Pompe Disease

scholarly journals Ocular and Histologic Findings in a Series of Children With Infantile Pompe Disease Treated With Enzyme Replacement Therapy

2014 ◽  
Vol 51 (6) ◽  
pp. 355-362 ◽  
Author(s):  
S. Grace Prakalapakorn ◽  
Alan D. Proia ◽  
Tammy L. Yanovitch ◽  
Stephanie DeArmey ◽  
Nancy J. Mendelsohn ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease
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