An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion

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...

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Bibliographic Details
Main Authors: Ryan Colburn, David Lapidus
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Pediatrics
Subjects:
Pompe (glycogen storage disease type 2/II)
rare disease epidemiology
newborn screening (NBS)
lysosomal storage disorder/disease (LSD)
autosomal recessive inheritance
genetic prevalence
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1221140/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1221140/full

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