{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,29]],"date-time":"2025-11-29T07:39:16Z","timestamp":1764401956849,"version":"build-2065373602"},"reference-count":33,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T00:00:00Z","timestamp":1675036800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>In recent years, there has been a significant increase in the diagnosis of asymptomatic Late-Onset Pompe Disease (LOPD) patients, who are detected via family screening or Newborn Screening (NBS). The dilemma is when to start Enzyme Replacement Therapy (ERT) in patients without any clinical sign of the disease, considering its important benefits in terms of loss of muscle but also its very high cost, risk of side effects, and long-term immunogenicity. Muscle Magnetic Resonance Imaging (MRI) is accessible, radiation-free, and reproducible; therefore, it is an important instrument for the diagnosis and follow-up of patients with LOPD, especially in asymptomatic cases. European guidelines suggest monitoring in asymptomatic LOPD cases with minimal MRI findings, although other guidelines consider starting ERT in apparently asymptomatic cases with initial muscle involvement (e.g., paraspinal muscles). We describe three siblings affected by LOPD who present compound heterozygosis and wide phenotypic variability. The three cases differ in age at presentation, symptoms, urinary tetrasaccharide levels, and MRI findings, confirming the significant phenotypic variability of LOPD and the difficulty in deciding when to start therapy.<\/jats:p>","DOI":"10.3390\/genes14020362","type":"journal-article","created":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T10:19:28Z","timestamp":1675073968000},"page":"362","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Treatment Dilemma in Children with Late-Onset Pompe Disease"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3426-2749","authenticated-orcid":false,"given":"Martha Caterina","family":"Faraguna","sequence":"first","affiliation":[{"name":"Residency in Pediatrics, University of Milano Bicoccca, 20126 Milano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viola","family":"Crescitelli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Fornari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Barzaghi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"Savasta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Rare Diseases, Ospedale Microcitemico Antonio Cao, University of Cagliari, 09124 Cagliari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0961-428X","authenticated-orcid":false,"given":"Thomas","family":"Foiadelli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"Veraldi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1221-7747","authenticated-orcid":false,"given":"Matteo","family":"Paoletti","sequence":"additional","affiliation":[{"name":"Neuroradiology Department, IRCCS \u201cC. Mondino Institute of Neurology\u201d Foundation, University of Pavia, 27100 Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5654-4088","authenticated-orcid":false,"given":"Anna","family":"Pichiecchio","sequence":"additional","affiliation":[{"name":"Neuroradiology Department, IRCCS \u201cC. Mondino Institute of Neurology\u201d Foundation, University of Pavia, 27100 Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8743-4407","authenticated-orcid":false,"given":"Serena","family":"Gasperini","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ymgme.2016.12.004","article-title":"The emerging phenotype of late-onset Pompe disease: A systematic literature review","volume":"120","author":"Chan","year":"2017","journal-title":"Mol. Genet. 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