Article

An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records

2024-04-23

Abstract excerpt

<title>Abstract</title> <p>Pompe disease (OMIM #232300), a rare genetic disorder, leads to glycogen buildup in the body due to an enzyme deficiency, particularly harming the heart and muscles. Infantile-onset Pompe disease (IOPD) requires urgent treatment to prevent mortality, but diagnosis is often delayed by inadequate newborn screening (NBS) methods or the unavailability of these methods. Our study aims to str...

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Literature Corpus work: 85161f2c-71cc-5018-bdf9-a7913c346d2d
DOI: 10.21203/rs.3.rs-4262735/v1

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