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...

Popoln opis

Bibliografske podrobnosti

Principais autores:	Ryan Colburn, David Lapidus
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2024-01-01
Serija:	Frontiers in Pediatrics
Teme:	Pompe (glycogen storage disease type 2/II) rare disease epidemiology newborn screening (NBS) lysosomal storage disorder/disease (LSD) autosomal recessive inheritance genetic prevalence
Online dostop:	https://www.frontiersin.org/articles/10.3389/fped.2023.1221140/full
Oznake:	Označite Brez oznak, prvi označite!