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Rairikar MV, Case LE, Bailey LA, <i>et al<\/i>. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.\u221232-13T&gt;G &quot;late-onset&quot; GAA variant. Mol Genet Metab 2017; 122: 99-107.","DOI":"10.1016\/j.ymgme.2017.09.008"},{"key":"6","unstructured":"6. Esmer C, Becerra-Becerra R, Pe\u00f1a-Zepeda C, Bravo-Oro A. A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease. Acta Myol 2013; 32: 95-9."},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Kanters TA, van der Ploeg AT, Kruijshaar ME, <i>et al<\/i>. Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease. Orphanet J Rare Dis 2017; 12: 179.","DOI":"10.1186\/s13023-017-0731-0"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Niyazov D, Lara DA. Improvement in cardiac function with enzyme replacement therapy in a patient with infantile-onset Pompe disease. 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