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

Date Published: 2024-01-31

Introduction:
Objectives: Primary: Establish a new figure for prevalence at birth for Pompe disease by collecting and analyzing the largest relevant dataset to date and using that result to project population prevalence at birth in a novel way. Secondary: Compare these results to previous analyses to offer a framework for evaluating ‘frequency’ data that can be applied to other rare, genetic diseases, along with methods to assess quality of estimates.

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