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 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 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

Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy

2016 ◽  
Vol 31 (14) ◽  
pp. 1617-1621 ◽  
Author(s):  
Chih-Jou Lai ◽  
Ting-Rong Hsu ◽  
Chia-Feng Yang ◽  
Shyi-Jou Chen ◽  
Ya-Chin Chuang ◽  
...  
Keyword(s):  
Cognitive Development ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Motor Development ◽  
Pompe Disease ◽  
Screening Program ◽  
Enzyme Replacement ◽  
The Impact ◽  
Bayley Scales ◽  
Clinical Diagnostic Criteria

Most patients with infantile-onset Pompe disease die in early infancy before beginning enzyme replacement therapy, which has made it difficult to evaluate the impact of Pompe disease on cognitive development. Patients with infantile-onset Pompe disease can survive with enzyme replacement therapy, and physicians can evaluate cognitive development in these patients. We established an effective newborn screening program with quick clinical diagnostic criteria. Cognitive and motor development were evaluated using the Bayley Scales of Infant and Toddler Development–Third Edition at 6, 12, and 24 months of age. The patients who were treated very early demonstrate normal cognitive development with no significant change in cognition during this period ( P = .18 > .05). The cognitive development was positively correlated with motor development ( r = 0.533, P = .011). The results indicated that very early enzyme replacement therapy could protect cognitive development in patients with infantile-onset Pompe disease up to 24 months of age.

When Should We Start Enzyme Replacement Therapy for Infantile Pompe Disease With Severe Cardiomyopathy?

2012 ◽  
Vol 65 (1) ◽  
pp. 100-102
Author(s):  
Juan L. Bonilla-Palomas ◽  
Antonio L. Gámez-López ◽  
María A. Tejero-Hernández ◽  
Ignacio Tejero-Mateo ◽  
Juana López-López
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease
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