A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III

Introduction: A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients with GSD IIIb. Objective and methods: To des...

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Auteurs principaux: Ghada Hijazi, Anna Paschall, Sarah P. Young, Brian Smith, Laura E. Case, Tracy Boggs, Sathya Amarasekara, Stephanie L. Austin, Surekha Pendyal, Areeg El-Gharbawy, Kristen L. Deak, Andrew J. Muir, Priya S. Kishnani
Format: article
Langue:EN
Publié: Elsevier 2021
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Accès en ligne:https://doaj.org/article/4e0ccde04a5d4a4db4785200b06ae36a
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