Skip to main content
Journal cover image

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

Altmetric Attention Stats
Dimensions Citation Stats

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, 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.
Journal cover image

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