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 Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy

2013 ◽  
Vol 8 (1) ◽  
pp. 90 ◽  
Author(s):  
Sean N Prater ◽  
Trusha T Patel ◽  
Anne F Buckley ◽  
Hanna Mandel ◽  
Eugene Vlodavski ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Muscle Pathology ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease

scholarly journals Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement

2020 ◽  
Vol 11 ◽  
Author(s):  
Matteo Paoletti ◽  
Anna Pichiecchio ◽  
Giovanna Stefania Colafati ◽  
Giorgio Conte ◽  
Federica Deodato ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Brain Mri ◽  
Enzyme Replacement ◽  
Median Period ◽  
Long Term Follow Up ◽  
Small Cohort ◽  
Infantile Pompe Disease

White matter (WM) abnormalities and ventricular enlargement in brain MRI are well-known features in infantile-onset Pompe disease (IOPD) in the era of enzyme replacement therapy (ERT). In this multicentric observational retrospective study, we report a small cohort of IOPD subjects under ERT treatment (n = 5, median age at MRI = 7.4 years, median period of treatment = 85 months) that showed the classic features of extensive supratentorial WM abnormalities but also unusual findings such as early infratentorial WM abnormalities and late supratentorial U-fiber involvement. Given the recent implementation of ERT and the rarity of the disease, a complete spectrum of presentation and understanding of progressive pathology in the brain of IOPD subjects in treatment remains underacknowledged. The availability of long-term follow-up of IOPD subjects under ERT treatment allows a better insight into the evolution of brain abnormalities in such disease.

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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