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

8 Jan 2024

Abstract excerpt

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, though differences may exist for PD subtypes. This study also compares these results, based on direct detection of...

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PMID: 38274468
DOI: 10.3389/fped.2023.1221140

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