{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:54:46Z","timestamp":1790805286112,"version":"4.1.0"},"reference-count":217,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T00:00:00Z","timestamp":1692662400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical presentations are usually considered, named infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD), which differ in age of onset, organ involvement, and severity of disease. Assessment of acid alpha-glucosidase activity on a dried blood spot is the first-line screening test, which needs to be confirmed by genetic analysis in case of suspected deficiency. LOPD is a multi-system disease, thus requiring a multidisciplinary approach for efficacious management. Enzyme replacement therapy (ERT), which was introduced over 15 years ago, changes the natural progression of the disease. However, it has limitations, including a reduction in efficacy over time and heterogeneous therapeutic responses among patients. Novel therapeutic approaches, such as gene therapy, are currently under study. We provide a comprehensive review of diagnostic advances in LOPD and a critical discussion about the advantages and limitations of current and future treatments.<\/jats:p>","DOI":"10.3390\/biom13091279","type":"journal-article","created":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T08:58:54Z","timestamp":1692694734000},"page":"1279","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":61,"title":["A Comprehensive Update on Late-Onset Pompe Disease"],"prefix":"10.3390","volume":"13","author":[{"given":"Beatrice","family":"Labella","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Sciences, University of Brescia, 25100 Brescia, Italy"},{"name":"Unit of Neurology, ASST Spedali Civili, 25100 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Cotti Piccinelli","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Sciences, University of Brescia, 25100 Brescia, Italy"},{"name":"NeMO-Brescia Clinical Center for Neuromuscular Diseases, 25064 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Risi","sequence":"additional","affiliation":[{"name":"NeMO-Brescia Clinical Center for Neuromuscular Diseases, 25064 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filomena","family":"Caria","sequence":"additional","affiliation":[{"name":"NeMO-Brescia Clinical Center for Neuromuscular Diseases, 25064 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-0465-5262","authenticated-orcid":false,"given":"Simona","family":"Damioli","sequence":"additional","affiliation":[{"name":"NeMO-Brescia Clinical Center for Neuromuscular Diseases, 25064 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrica","family":"Bertella","sequence":"additional","affiliation":[{"name":"NeMO-Brescia Clinical Center for Neuromuscular Diseases, 25064 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4912-818X","authenticated-orcid":false,"given":"Loris","family":"Poli","sequence":"additional","affiliation":[{"name":"Unit of Neurology, ASST Spedali Civili, 25100 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Padovani","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Sciences, University of Brescia, 25100 Brescia, Italy"},{"name":"Unit of Neurology, ASST Spedali Civili, 25100 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2852-7512","authenticated-orcid":false,"given":"Massimiliano","family":"Filosto","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Sciences, University of Brescia, 25100 Brescia, Italy"},{"name":"NeMO-Brescia Clinical Center for Neuromuscular Diseases, 25064 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Meena, N.K., and Raben, N. 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