Article

An uncommon case of neonatal asphyxia associated with Infantile-Onset Pompe Disease

2025-04-21

Abstract excerpt

<title>Abstract</title> <p><bold>Introduction</bold> Pompe disease, also known as glycogenosis type II or acid maltase deficiency, is autosomal recessive disease caused by deficiency in alpha glucosidase. The severity depends on the age of onset and on the early therapy. <bold>Case Presentation</bold> we present a case report of a male infant, gestational age of 39 weeks, inborn. Medical history reveals a consang...

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Literature Corpus work: 65b23581-ef83-5cc6-9a87-241b99672629
DOI: 10.21203/rs.3.rs-6271024/v1

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