Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening.
Publication
, Journal Article
Herbert, M; Cope, H; Li, JS; Kishnani, PS
Published in: J Pediatr
July 2018
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.
Duke Scholars
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Published In
J Pediatr
DOI
EISSN
1097-6833
Publication Date
July 2018
Volume
198
Start / End Page
308 / 312
Location
United States
Related Subject Headings
- Young Adult
- Pediatrics
- Neonatal Screening
- Mutation
- Middle Aged
- Male
- Infant, Newborn
- Infant
- Humans
- Heart Diseases
Citation
APA
Chicago
ICMJE
MLA
NLM
Herbert, M., Cope, H., Li, J. S., & Kishnani, P. S. (2018). Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening. J Pediatr, 198, 308–312. https://doi.org/10.1016/j.jpeds.2018.02.007
Herbert, Mrudu, Heidi Cope, Jennifer S. Li, and Priya S. Kishnani. “Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening.” J Pediatr 198 (July 2018): 308–12. https://doi.org/10.1016/j.jpeds.2018.02.007.
Herbert M, Cope H, Li JS, Kishnani PS. Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening. J Pediatr. 2018 Jul;198:308–12.
Herbert, Mrudu, et al. “Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening.” J Pediatr, vol. 198, July 2018, pp. 308–12. Pubmed, doi:10.1016/j.jpeds.2018.02.007.
Herbert M, Cope H, Li JS, Kishnani PS. Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening. J Pediatr. 2018 Jul;198:308–312.
Published In
J Pediatr
DOI
EISSN
1097-6833
Publication Date
July 2018
Volume
198
Start / End Page
308 / 312
Location
United States
Related Subject Headings
- Young Adult
- Pediatrics
- Neonatal Screening
- Mutation
- Middle Aged
- Male
- Infant, Newborn
- Infant
- Humans
- Heart Diseases