Article

Navigating Pompe Disease Assessment: A Comprehensive Scoping Review

2024-01-30

Abstract excerpt

<title>Abstract</title> <p>Background Pompe Disease (PD) is a rare progressive autosomal recessive disorder resulting from deficient acid alpha-glucosidase (GAA) enzyme activity, necessitating timely identification and management. This scoping review aimed to synthesize the evidence regarding assessment methods for screening, diagnosing, and following up PD. Methods and Results We searched citations in English...

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Literature Corpus work: 9b7b1aea-b319-5738-8a20-d5a8725fdcf3
DOI: 10.21203/rs.3.rs-3909349/v1

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