Journal
JOURNAL OF PEDIATRICS
Volume 198, Issue -, Pages 308-312Publisher
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2018.02.007
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Funding
- Genzyme Corporation
- Amicus Therapeutics
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Based on a review of a large patient cohort, published literature, and 3 newborn screening cohorts, we concluded that children diagnosed through newborn screening with late-onset Pompe disease and the common heterozygous c.-32-13T>G variant require frequent cardiac follow-up with electrocardiography for arrhythmias. However, there is limited evidence for performing repeated echocardiography for cardiomyopathy.
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