Article

Unifying the communities of early-onset glycogen storage disease type IV and adult polyglucosan body disease through a genetic prevalence study of <i>GBE1</i> -related disease

2025-12-17

Abstract excerpt

<h4>ABSTRACT</h4> Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder caused by pathogenic variants in GBE1 , resulting in deficient glycogen branching enzyme (GBE) activity and formation of abnormal glycogen (“polyglucosan”). GSD IV manifests across a spectrum of clinical dimensions – including hepatic, neurologic, muscular, and cardiac involvement – which vary in severity. The early-on...

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Literature Corpus work: 94668bb3-c977-5e4d-b0c0-349ce5a0b7b2
DOI: 10.64898/2025.12.16.25342386

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Unifying the communities of early-onset glycogen storage disease type IV and adult polyglucosan body disease through a genetic prevalence study of <i>GBE1</i> -related diseaseDOI 10.64898/2025.12.16.25342386Read

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