{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T19:18:23Z","timestamp":1757618303142,"version":"3.44.0"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2025,6,16]],"date-time":"2025-06-16T00:00:00Z","timestamp":1750032000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,6,16]],"date-time":"2025-06-16T00:00:00Z","timestamp":1750032000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2025,7]]},"DOI":"10.1007\/s00415-025-13105-0","type":"journal-article","created":{"date-parts":[[2025,6,16]],"date-time":"2025-06-16T13:45:58Z","timestamp":1750081558000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and therapeutic clues from a long-term follow-up: a single center experience on a large LOPD population"],"prefix":"10.1007","volume":"272","author":[{"given":"Alessia","family":"Pugliese","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mattia","family":"Porcino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Selene Francesca Anna","family":"Drago","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Trimarchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmelo","family":"Rodolico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olimpia","family":"Musumeci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Toscano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,6,16]]},"reference":[{"key":"13105_CR1","doi-asserted-by":"publisher","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","volume":"372","author":"AT Van der Ploeg","year":"2008","unstructured":"Van der Ploeg AT, Reuser AJ (2008) Pompe\u2019s disease. Lancet 372:1342\u20131353","journal-title":"Lancet"},{"key":"13105_CR2","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19980827)79:1<69::aid-ajmg16>3.0.co;2-k","author":"F Martiniuk","year":"1998","unstructured":"Martiniuk F, Chen A, Mack A, Arvanitopoulos E, Chen Y, Rom WN, Codd WJ, Hanna B, Alcabes P, Raben N, Plotz P (1998) Carrier frequency for glycogen storage disease type II in New York and estimates of affected and individuals born with the disease. Am J Med Genet. https:\/\/doi.org\/10.1002\/(sici)1096-8628(19980827)79:1%3c69::aid-ajmg16%3e3.0.co;2-k","journal-title":"Am J Med Genet"},{"issue":"5 Suppl","key":"13105_CR3","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/j.jpeds.2004.01.053","volume":"144","author":"PS Kishnani","year":"2004","unstructured":"Kishnani PS, Howell RR (2004) Pompe disease in infants and children. J Pediatr 144(5 Suppl):35\u201343. https:\/\/doi.org\/10.1016\/j.jpeds.2004.01.053","journal-title":"J Pediatr"},{"key":"13105_CR4","doi-asserted-by":"publisher","first-page":"284","DOI":"10.21037\/atm.2019.07.24","volume":"7","author":"A Toscano","year":"2019","unstructured":"Toscano A, Rodolico C, Musumeci O (2019) Multisystem late onset Pompe disease (LOPD): an update on clinical aspects. Ann Transl Med 7:284\u2013284. https:\/\/doi.org\/10.21037\/atm.2019.07.24","journal-title":"Ann Transl Med"},{"key":"13105_CR5","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1111\/ene.13285","volume":"24","author":"AT Van der Ploeg","year":"2017","unstructured":"Van der Ploeg AT, Kruijshaar ME, Toscano A et al (2017) European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. Eur J Neurol 24:768-e31. https:\/\/doi.org\/10.1111\/ene.13285","journal-title":"Eur J Neurol"},{"key":"13105_CR6","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1002\/mus.21393","volume":"40","author":"American Association of Neuromuscular & Electrodiagnostic Medicine","year":"2009","unstructured":"American Association of Neuromuscular & Electrodiagnostic Medicine (2009) Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve 40:149\u2013160. https:\/\/doi.org\/10.1002\/mus.21393","journal-title":"Muscle Nerve"},{"key":"13105_CR7","doi-asserted-by":"publisher","first-page":"286","DOI":"10.21037\/atm.2019.06.60","volume":"7","author":"O Musumeci","year":"2019","unstructured":"Musumeci O, Toscano A (2019) Diagnostic tools in late onset Pompe disease (LOPD). Ann Transl Med 7:286\u2013286. https:\/\/doi.org\/10.21037\/atm.2019.06.60","journal-title":"Ann Transl Med"},{"key":"13105_CR8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2024.101085","volume":"39","author":"B Schoser","year":"2024","unstructured":"Schoser B, Raben N, Varfaj F et al (2024) Acid \u03b1-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: a systematic review. Mol Genet Metab Rep 39:101085. https:\/\/doi.org\/10.1016\/j.ymgmr.2024.101085","journal-title":"Mol Genet Metab Rep"},{"key":"13105_CR9","doi-asserted-by":"publisher","DOI":"10.1111\/ene.16383","author":"B Schoser","year":"2024","unstructured":"Schoser B, van der Beek NAME, Broomfield A et al (2024) Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024. Eur J Neurol. https:\/\/doi.org\/10.1111\/ene.16383","journal-title":"Eur J Neurol"},{"key":"13105_CR10","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD011539.PUB2","author":"M Chen","year":"2017","unstructured":"Chen M, Zhang L, Quan S (2017) Enzyme replacement therapy for infantile-onset Pompe disease. Cochrane Database Syst Rev. https:\/\/doi.org\/10.1002\/14651858.CD011539.PUB2","journal-title":"Cochrane Database Syst Rev"},{"key":"13105_CR11","doi-asserted-by":"publisher","first-page":"1012","DOI":"10.1016\/S1474-4422(21)00241-6","volume":"20","author":"J Diaz-Manera","year":"2021","unstructured":"Diaz-Manera J, Kishnani PS, Kushlaf H et al (2021) Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. Lancet Neurol 20:1012\u20131026. https:\/\/doi.org\/10.1016\/S1474-4422(21)00241-6","journal-title":"Lancet Neurol"},{"key":"13105_CR12","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1001\/jamaneurol.2023.0552","volume":"80","author":"PS Kishnani","year":"2023","unstructured":"Kishnani PS, Diaz-Manera J, Toscano A et al (2023) Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 97 weeks: a phase 3 randomized clinical trial. JAMA Neurol 80:558\u2013567. https:\/\/doi.org\/10.1001\/jamaneurol.2023.0552","journal-title":"JAMA Neurol"},{"key":"13105_CR13","doi-asserted-by":"publisher","first-page":"1027","DOI":"10.1016\/S1474-4422(21)00331-8","volume":"20","author":"B Schoser","year":"2021","unstructured":"Schoser B, Roberts M, Byrne BJ et al (2021) Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial. Lancet Neurol 20:1027\u20131037. https:\/\/doi.org\/10.1016\/S1474-4422(21)00331-8","journal-title":"Lancet Neurol"},{"key":"13105_CR14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2023.108121","volume":"141","author":"A Toscano","year":"2024","unstructured":"Toscano A, Pollissard L, Msihid J et al (2024) Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-na\u00efve adults with late-onset Pompe disease compared with alglucosidase alfa: meaningful change analyses from the Phase 3 COMET trial. Mol Genet Metab 141:108121. https:\/\/doi.org\/10.1016\/j.ymgme.2023.108121","journal-title":"Mol Genet Metab"},{"key":"13105_CR15","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1007\/s00415-016-8219-8","volume":"264","author":"B Schoser","year":"2017","unstructured":"Schoser B, Stewart A, Kanters S et al (2017) Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. J Neurol 264:621\u2013630","journal-title":"J Neurol"},{"key":"13105_CR16","doi-asserted-by":"publisher","first-page":"e536","DOI":"10.1212\/WNL.0000000000200746","volume":"99","author":"MM Dimachkie","year":"2022","unstructured":"Dimachkie MM, Barohn RJ, Byrne B et al (2022) Long-term safety and efficacy of avalglucosidase alfa in patients with late-onset Pompe disease. Neurology 99:e536\u2013e548. https:\/\/doi.org\/10.1212\/WNL.0000000000200746","journal-title":"Neurology"},{"key":"13105_CR17","doi-asserted-by":"publisher","DOI":"10.1111\/ene.16292","author":"C Tard","year":"2024","unstructured":"Tard C, Bouhour F, Michaud M et al (2024) Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: a French cohort study. Eur J Neurol. https:\/\/doi.org\/10.1111\/ene.16292","journal-title":"Eur J Neurol"},{"key":"13105_CR18","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1186\/s41687-024-00805-w","volume":"8","author":"PS Kishnani","year":"2024","unstructured":"Kishnani PS, Byrne BJ, Claeys KG et al (2024) Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease. J Patient Rep Outcomes 8:132. https:\/\/doi.org\/10.1186\/s41687-024-00805-w","journal-title":"J Patient Rep Outcomes"},{"key":"13105_CR19","doi-asserted-by":"publisher","first-page":"2365","DOI":"10.1212\/WNL.0000000000004711","volume":"89","author":"E Kuperus","year":"2017","unstructured":"Kuperus E, Kruijshaar ME, Wens SCA et al (2017) Long-term benefit of enzyme replacement therapy in Pompe disease A 5-year prospective study. Neurology 89:2365\u20132373. https:\/\/doi.org\/10.1212\/WNL.0000000000004711","journal-title":"Neurology"},{"key":"13105_CR20","doi-asserted-by":"publisher","first-page":"e1756","DOI":"10.1212\/WNL.0000000000008441","volume":"93","author":"L Harlaar","year":"2019","unstructured":"Harlaar L, Hogrel JY, Perniconi B et al (2019) Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease. Neurology 93:e1756\u2013e1767. https:\/\/doi.org\/10.1212\/WNL.0000000000008441","journal-title":"Neurology"},{"key":"13105_CR21","doi-asserted-by":"publisher","first-page":"2482","DOI":"10.1007\/s00415-021-10409-9","volume":"268","author":"K Gutschmidt","year":"2021","unstructured":"Gutschmidt K, Musumeci O, D\u00edaz-Manera J et al (2021) STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa. J Neurol 268:2482\u20132492. https:\/\/doi.org\/10.1007\/s00415-021-10409-9","journal-title":"J Neurol"},{"key":"13105_CR22","volume-title":"Practical nonparametric statistics","author":"WJ Conover","year":"1999","unstructured":"Conover WJ (1999) Practical nonparametric statistics. Wiley, Hoboken"},{"key":"13105_CR23","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1016\/j.ymgme.2015.02.004","volume":"114","author":"J P\u00e9rez-L\u00f3pez","year":"2015","unstructured":"P\u00e9rez-L\u00f3pez J, Selva-O\u2019Callaghan A, Grau-Junyent JM et al (2015) Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and\/or hyperCKemia. Mol Genet Metab 114:580\u2013583. https:\/\/doi.org\/10.1016\/j.ymgme.2015.02.004","journal-title":"Mol Genet Metab"},{"key":"13105_CR24","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1136\/jnnp-2014-310164","volume":"87","author":"O Musumeci","year":"2016","unstructured":"Musumeci O, la Marca G, Spada M et al (2016) LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. J Neurol Neurosurg Psychiatry 87:5\u201311. https:\/\/doi.org\/10.1136\/jnnp-2014-310164","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"13105_CR25","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1016\/j.cccn.2005.05.025","volume":"361","author":"K Umapathysivam","year":"2005","unstructured":"Umapathysivam K, Hopwood JJ, Meikle PJ (2005) Correlation of acid \u03b1-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease. Clin Chim Acta 361:191\u2013198. https:\/\/doi.org\/10.1016\/j.cccn.2005.05.025","journal-title":"Clin Chim Acta"},{"key":"13105_CR26","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1186\/1750-1172-7-73","volume":"7","author":"JM de Vries","year":"2012","unstructured":"de Vries JM, van der Beek NA, Hop WC et al (2012) Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study. Orphanet J Rare Dis 7:73. https:\/\/doi.org\/10.1186\/1750-1172-7-73","journal-title":"Orphanet J Rare Dis"},{"key":"13105_CR27","doi-asserted-by":"publisher","first-page":"2312","DOI":"10.1016\/j.clinph.2011.04.016","volume":"122","author":"LD Hobson-Webb","year":"2011","unstructured":"Hobson-Webb LD, DeArmey S, Kishnani PS (2011) The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings. Clin Neurophysiol 122:2312\u20132317. https:\/\/doi.org\/10.1016\/j.clinph.2011.04.016","journal-title":"Clin Neurophysiol"},{"key":"13105_CR28","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1016\/0022-510x(87)90239-5","volume":"79","author":"AT Van Der Ploeg","year":"1987","unstructured":"Van Der Ploeg AT, Kroos M, Van Dongen JM et al (1987) Breakdown of lysosomal glycogen in cultured fibroblasts from glycogenosis type II patients after uptake of acid c-glucosidase. J Neurol Sci 79:327\u2013336. https:\/\/doi.org\/10.1016\/0022-510x(87)90239-5","journal-title":"J Neurol Sci"},{"key":"13105_CR29","doi-asserted-by":"publisher","DOI":"10.2137\/atm.2019.05.29","author":"B Schoser","year":"2019","unstructured":"Schoser B (2019) Pompe disease: what are we missing? Ann Transl Med. https:\/\/doi.org\/10.2137\/atm.2019.05.29","journal-title":"Ann Transl Med"},{"key":"13105_CR30","doi-asserted-by":"publisher","first-page":"999","DOI":"10.1002\/humu.20374","volume":"27","author":"ALE Montalvo","year":"2006","unstructured":"Montalvo ALE, Bembi B, Donnarumma M et al (2006) Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. Hum Mutat 27:999\u20131006. https:\/\/doi.org\/10.1002\/humu.20374","journal-title":"Hum Mutat"},{"key":"13105_CR31","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1111\/nan.12580","volume":"46","author":"M Kulessa","year":"2020","unstructured":"Kulessa M, Weyer-Menkhoff I, Viergutz L et al (2020) An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease. Neuropathol Appl Neurobiol 46:359\u2013374. https:\/\/doi.org\/10.1111\/nan.12580","journal-title":"Neuropathol Appl Neurobiol"},{"key":"13105_CR32","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1186\/1750-1172-8-49","volume":"8","author":"D G\u00fcng\u00f6r","year":"2013","unstructured":"G\u00fcng\u00f6r D, Kruijshaar ME, Plug I et al (2013) Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study. OrphanetJRareDis 8:49. https:\/\/doi.org\/10.1186\/1750-1172-8-49","journal-title":"OrphanetJRareDis"},{"key":"13105_CR33","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12272","author":"C Semplicini","year":"2020","unstructured":"Semplicini C, de Antonio M, Taouagh N et al (2020) Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry. J Inherit Metab Dis. https:\/\/doi.org\/10.1002\/jimd.12272","journal-title":"J Inherit Metab Dis"},{"key":"13105_CR34","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/j.neurol.2022.12.004","volume":"179","author":"C Gu\u00e9my","year":"2023","unstructured":"Gu\u00e9my C, Lafor\u00eat P (2023) The new horizons for treatment of late-onset Pompe disease (LOPD). Rev Neurol (Paris) 179:81\u201389. https:\/\/doi.org\/10.1016\/j.neurol.2022.12.004","journal-title":"Rev Neurol (Paris)"},{"key":"13105_CR35","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2025.105277","volume":"47","author":"M Porcino","year":"2025","unstructured":"Porcino M, Musumeci O, Usbergo C et al (2025) Management of presymptomatic juvenile patients with late-onset Pompe disease (LOPD). Neuromuscul Disord 47:105277. https:\/\/doi.org\/10.1016\/j.nmd.2025.105277","journal-title":"Neuromuscul Disord"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-025-13105-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-025-13105-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-025-13105-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,6]],"date-time":"2025-09-06T19:54:17Z","timestamp":1757188457000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-025-13105-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,16]]},"references-count":35,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["13105"],"URL":"https:\/\/doi.org\/10.1007\/s00415-025-13105-0","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"type":"print","value":"0340-5354"},{"type":"electronic","value":"1432-1459"}],"subject":[],"published":{"date-parts":[[2025,6,16]]},"assertion":[{"value":"12 February 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 April 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 April 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 June 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have nothing to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"The study follows the ethical standard provided by the Declaration of Helsinki. Written consent to participate was obtained by patients.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}],"article-number":"464"}}