An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion
This study includes over 11.6M newborns screened (NBS) for Pompe Disease (PD) from 29 distinct universal screening programs across 8 countries and 4 continents. The birth prevalence of PD is 1:18,711, with no evidence of difference across populations of European, Latin American, or Asian ancestry, t...
Main Authors: | Ryan Colburn, David Lapidus |
---|---|
Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2024-01-01
|
Series: | Frontiers in Pediatrics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1221140/full |
Similar Items
-
Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening
by: Shelly Goomber, et al.
Published: (2022-09-01) -
Late-Onset Pompe Disease: A Diagnostic Challenge
by: Ritesh Shah, et al.
Published: (2021-04-01) -
Pregnancy Outcomes in Late Onset Pompe Disease
by: Ozlem Goker-Alpan, et al.
Published: (2020-09-01) -
Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes
by: Nuria Gómez-Cebrián, et al.
Published: (2023-08-01) -
Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease
by: Barry J. Byrne, et al.
Published: (2024-10-01)