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In the pediatric population, it classically presents as hepatomegaly with or without ketotic hypoglycemia and failure to thrive. In the adult population, it should also be considered in the differential diagnosis of left ventricular hypertrophy or hypertrophic cardiomyopathy, myopathy, exercise intolerance, as well as liver cirrhosis or fibrosis with subsequent liver failure. In this review article, we first present an overview of the biochemical and clinical aspects of GSDIII. We then focus on the recent findings regarding cardiac and neuromuscular impairment associated with the disease. We review new insights into the pathophysiology and clinical picture of this disorder, including symptomatology, imaging and electrophysiology. Finally, we discuss current and upcoming treatment strategies such as gene therapy aimed at the replacement of the malfunctioning enzyme to provide a stable and long\u2010term therapeutic option for this debilitating disease.<\/jats:p>","DOI":"10.1002\/jimd.12355","type":"journal-article","created":{"date-parts":[[2020,12,25]],"date-time":"2020-12-25T09:49:40Z","timestamp":1608889780000},"page":"521-533","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Narrative review of glycogen storage disorder type <scp>III<\/scp> with a focus on neuromuscular, cardiac and therapeutic aspects"],"prefix":"10.1002","volume":"44","author":[{"given":"\u00c9douard","family":"Berling","sequence":"first","affiliation":[{"name":"G\u00e9n\u00e9thon  Evry France"},{"name":"Universit\u00e9 Paris\u2010Saclay Univ Evry, INSERM, G\u00e9n\u00e9thon, Integrare Research Unit UMR_S951  Evry 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