{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T07:42:48Z","timestamp":1784274168401,"version":"3.55.0"},"reference-count":46,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100004339","name":"Sanofi","doi-asserted-by":"publisher","award":["sgz202013331"],"award-info":[{"award-number":["sgz202013331"]}],"id":[{"id":"10.13039\/100004339","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["Ricerca Corrente 2022\u20102024"],"award-info":[{"award-number":["Ricerca Corrente 2022\u20102024"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Early treatment in late\u2010onset Pompe disease (LOPD) increasingly depends on detecting subclinical muscle involvement. Quantitative muscle MRI (qMRI) has emerged as a promising tool in this context. We conducted a multicenter prospective study in LOPD patients (\u2265\u200910\u2010years\u2010old), stratified into early\u2010stage (Walton 0\u20131, FVC \u2265\u200980%) and symptomatic (Walton 2\u20136). Thigh MRIs were acquired at 3\u2009T using T1\u2010weighted and STIR sequences. Fat fraction (FF) and water T2 (wT2) were calculated in 11 different regions using 6\u2010point Dixon and 17\u2010echo multi\u2010echo spin\u2010echo acquisitions, respectively. Functional, respiratory, and patient\u2010reported outcomes were assessed. The adductor magnus (AM)\/rectus femoris (RF) FF ratio was evaluated for its discriminative power. wT2 was analyzed as a binary score per muscle (0 or 1), depending on whether its value exceeded the control mean plus two SD, and summed across 11 muscles to compute an individual wT2 involvement score (WIS). Thirty\u2010three LOPD patients (16 early\u2010stage; 17 symptomatic) and 34 controls were recruited. Thigh FF strongly correlated with clinical scales (\n                    <jats:italic>\u03c1<\/jats:italic>\n                    up to 0.86). ROC analysis identified AM as the best discriminator (AUC: 0.96, cut off \u2265\u20097.93%), with similar performance for the AM\/RF ratio (AUC: 0.94). wT2 showed weaker correlation with clinical scores compared to FF; symptomatic patients had higher WIS compared to early\u2010stage and controls. Thigh FF is a robust biomarker of disease severity. AM FF and the age\u2010independent AM\/RF FF are sensitive to early structural changes. A WIS &gt;\u20093 may reflect symptomatic disease. If validated longitudinally, these qMRI parameters could help guide optimal timing of therapy initiation.\n                  <\/jats:p>","DOI":"10.1002\/jimd.70145","type":"journal-article","created":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T23:20:50Z","timestamp":1768864850000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Quantitative\n                    <scp>MRI<\/scp>\n                    Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease"],"prefix":"10.1002","volume":"49","author":[{"given":"Michele G.","family":"Croce","sequence":"first","affiliation":[{"name":"Department of Brain and Behavioural Sciences University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo","family":"Barzaghi","sequence":"additional","affiliation":[{"name":"Department of Mathematics University of Pavia  Pavia Italy"},{"name":"Advanced Imaging and Artificial Intelligence Center, Neuroradiology Department IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Paoletti","sequence":"additional","affiliation":[{"name":"Advanced Imaging and Artificial Intelligence Center, Neuroradiology Department IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Bonizzoni","sequence":"additional","affiliation":[{"name":"Advanced Imaging and Artificial Intelligence Center, Neuroradiology Department IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niels","family":"Bergsland","sequence":"additional","affiliation":[{"name":"Buffalo Neuroimaging Analysis Center, Department of Neurology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo State University of New York  Buffalo New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xeni","family":"Deligianni","sequence":"additional","affiliation":[{"name":"Department of Radiology University Hospital Basel  Basel Switzerland"},{"name":"Basel Muscle MRI, Department of Biomedical Engineering University of Basel  Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6984-4816","authenticated-orcid":false,"given":"Francesco","family":"Santini","sequence":"additional","affiliation":[{"name":"Department of Radiology University Hospital Basel  Basel Switzerland"},{"name":"Basel Muscle MRI, Department of Biomedical Engineering University of Basel  Basel Switzerland"}],"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  Brescia Italy"},{"name":"NeMO\u2010Brescia Clinical Center for Neuromuscular Diseases  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana E.","family":"Mongini","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurosciences University of Turin  Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Grandis","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal Infantile Sciences University of Genoa  Genova Italy"},{"name":"IRCCS Ospedale Policlinico San Martino  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Gasperini","sequence":"additional","affiliation":[{"name":"Pediatrics, Fondazione IRCCS San Gerardo Dei Tintori  Monza 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