{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T00:09:24Z","timestamp":1761523764375,"version":"3.37.3"},"reference-count":51,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2019,5,18]],"date-time":"2019-05-18T00:00:00Z","timestamp":1558137600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,5,18]],"date-time":"2019-05-18T00:00:00Z","timestamp":1558137600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2019,8]]},"DOI":"10.1007\/s00415-019-09373-2","type":"journal-article","created":{"date-parts":[[2019,5,19]],"date-time":"2019-05-19T11:02:04Z","timestamp":1558263724000},"page":"2010-2017","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes\u2014the Pompe disease burden scale"],"prefix":"10.1007","volume":"266","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4419-2767","authenticated-orcid":false,"given":"Thomas","family":"Hundsberger","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Leupold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai Michael","family":"R\u00f6sler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul Martin","family":"Putora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,5,18]]},"reference":[{"key":"9373_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 AJJ (2008) Pompe\u2019s disease. Lancet 372:1342\u20131353. \n                    https:\/\/doi.org\/10.1016\/S0140-6736(08)61555-X\n                    \n                  \n                           (London, England)","journal-title":"Lancet"},{"key":"9373_CR2","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1007\/s00415-017-8686-6","volume":"265","author":"WN L\u00f6scher","year":"2018","unstructured":"L\u00f6scher WN, Huemer M, Stulnig TM et al (2018) Pompe disease in Austria: clinical, genetic and epidemiological aspects. J Neurol 265:159\u2013164. \n                    https:\/\/doi.org\/10.1007\/s00415-017-8686-6","journal-title":"J Neurol"},{"key":"9373_CR3","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1097\/01.gim.0000218152.87434.f3","volume":"8","author":"PS Kishnani","year":"2006","unstructured":"Kishnani PS, Steiner RD, Bali D et al (2006) Pompe disease diagnosis and management guideline. Genet Med 8:267\u2013288. \n                    https:\/\/doi.org\/10.1097\/01.gim.0000218152.87434.f3","journal-title":"Genet Med"},{"key":"9373_CR4","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1203\/PDR.0b013e3181b24e94","volume":"66","author":"PS Kishnani","year":"2009","unstructured":"Kishnani PS, Corzo D, Leslie ND et al (2009) Early treatment with alglucosidase alfa prolongs long-term survival of infants with Pompe disease. Pediatr Res 66:329\u2013335. \n                    https:\/\/doi.org\/10.1203\/PDR.0b013e3181b24e94","journal-title":"Pediatr Res"},{"key":"9373_CR5","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1111\/dmcn.13740","volume":"60","author":"BJ Ebbink","year":"2018","unstructured":"Ebbink BJ, Poelman E, Aarsen FK et al (2018) Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain. Dev Med Child Neurol 60:579\u2013586. \n                    https:\/\/doi.org\/10.1111\/dmcn.13740","journal-title":"Dev Med Child Neurol"},{"key":"9373_CR6","doi-asserted-by":"publisher","first-page":"1512","DOI":"10.1212\/WNL.0b013e3182553c11","volume":"78","author":"BJ Ebbink","year":"2012","unstructured":"Ebbink BJ, Aarsen FK, Van Gelder CM et al (2012) Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy. Neurology 78:1512\u20131518. \n                    https:\/\/doi.org\/10.1212\/WNL.0b013e3182553c11","journal-title":"Neurology"},{"key":"9373_CR7","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10545-018-0198-8","volume":"42","author":"J Milverton","year":"2018","unstructured":"Milverton J, Newton S, Merlin T (2018) The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review. J Inherit Metab Dis 42:1\u20138. \n                    https:\/\/doi.org\/10.1007\/s10545-018-0198-8","journal-title":"J Inherit Metab Dis"},{"key":"9373_CR8","doi-asserted-by":"publisher","first-page":"968","DOI":"10.1007\/s00415-015-7664-0","volume":"262","author":"F Montagnese","year":"2015","unstructured":"Montagnese F, Barca E, Musumeci O et al (2015) Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment. J Neurol 262:968\u2013978. \n                    https:\/\/doi.org\/10.1007\/s00415-015-7664-0","journal-title":"J Neurol"},{"key":"9373_CR9","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. Orphanet J Rare Dis 8:49. \n                    https:\/\/doi.org\/10.1186\/1750-1172-8-49","journal-title":"Orphanet J Rare Dis"},{"key":"9373_CR10","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1007\/s10545-015-9889-6","volume":"39","author":"D G\u00fcng\u00f6r","year":"2016","unstructured":"G\u00fcng\u00f6r D, Kruijshaar ME, Plug I et al (2016) Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up. J Inherit Metab Dis 39:253\u2013260. \n                    https:\/\/doi.org\/10.1007\/s10545-015-9889-6","journal-title":"J Inherit Metab Dis"},{"key":"9373_CR11","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1016\/j.ymgme.2013.03.016","volume":"109","author":"D G\u00fcng\u00f6r","year":"2013","unstructured":"G\u00fcng\u00f6r D, De Vries JM, Brusse E et al (2013) Enzyme replacement therapy and fatigue in adults with Pompe disease. Mol Genet Metab 109:174\u2013178. \n                    https:\/\/doi.org\/10.1016\/j.ymgme.2013.03.016","journal-title":"Mol Genet Metab"},{"key":"9373_CR12","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1016\/j.ymgme.2013.05.021","volume":"109","author":"D G\u00fcng\u00f6r","year":"2013","unstructured":"G\u00fcng\u00f6r D, Schober AK, Kruijshaar ME et al (2013) Pain in adult patients with Pompe disease: a cross-sectional survey. Mol Genet Metab 109:371\u2013376. \n                    https:\/\/doi.org\/10.1016\/j.ymgme.2013.05.021","journal-title":"Mol Genet Metab"},{"key":"9373_CR13","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1186\/s12883-017-0983-2","volume":"17","author":"B Schoser","year":"2017","unstructured":"Schoser B, Bilder DA, Dimmock D et al (2017) The humanistic burden of Pompe disease: are there still unmet needs? A systematic review. BMC Neurol 17:202. \n                    https:\/\/doi.org\/10.1186\/s12883-017-0983-2","journal-title":"BMC Neurol"},{"key":"9373_CR14","doi-asserted-by":"publisher","first-page":"1396","DOI":"10.1056\/NEJMoa0909859","volume":"362","author":"AT van der Ploeg","year":"2010","unstructured":"van der Ploeg AT, Clemens PR, Corzo D et al (2010) A randomized study of alglucosidase alfa in late-onset Pompe\u2019s disease. N Engl J Med 362:1396\u20131406. \n                    https:\/\/doi.org\/10.1056\/NEJMoa0909859","journal-title":"N Engl J Med"},{"key":"9373_CR15","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 SCAC et al (2017) Long-term benefit of enzyme replacement therapy in Pompe disease. Neurology 89:2365\u20132373. \n                    https:\/\/doi.org\/10.1212\/WNL.0000000000004711","journal-title":"Neurology"},{"key":"9373_CR16","doi-asserted-by":"publisher","first-page":"951","DOI":"10.1007\/s00415-012-6636-x","volume":"260","author":"A Toscano","year":"2013","unstructured":"Toscano A, Schoser B (2013) Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol 260:951\u2013959. \n                    https:\/\/doi.org\/10.1007\/s00415-012-6636-x","journal-title":"J Neurol"},{"key":"9373_CR17","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. \n                    https:\/\/doi.org\/10.1136\/jnnp-2014-310164","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"9373_CR18","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1016\/j.ymgme.2011.06.012","volume":"104","author":"NAME van der Beek","year":"2011","unstructured":"van der Beek NAME, van Capelle CI, van der Velden-van Etten KI et al (2011) Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease. Mol Genet Metab 104:129\u2013136. \n                    https:\/\/doi.org\/10.1016\/j.ymgme.2011.06.012","journal-title":"Mol Genet Metab"},{"key":"9373_CR19","doi-asserted-by":"publisher","first-page":"2279","DOI":"10.1007\/s00415-013-6980-5","volume":"260","author":"T Hundsberger","year":"2013","unstructured":"Hundsberger T, Rohrbach M, Kern L, R\u00f6sler KM (2013) Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease. J Neurol 260:2279\u20132285. \n                    https:\/\/doi.org\/10.1007\/s00415-013-6980-5","journal-title":"J Neurol"},{"key":"9373_CR20","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1017\/cjn.2016.37","volume":"43","author":"M Tarnopolsky","year":"2016","unstructured":"Tarnopolsky M, Katzberg H, Petrof BJ et al (2016) Pompe disease: diagnosis and management. Evidence-based guidelines from a Canadian expert panel. Can J Neurol Sci 43:1\u201314. \n                    https:\/\/doi.org\/10.1017\/cjn.2016.37","journal-title":"Can J Neurol Sci"},{"key":"9373_CR21","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1186\/s12883-015-0412-3","volume":"15","author":"F Al Jasmi","year":"2015","unstructured":"Al Jasmi F, Al Jumah M, Alqarni F et al (2015) Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group. BMC Neurol 15:205. \n                    https:\/\/doi.org\/10.1186\/s12883-015-0412-3","journal-title":"BMC Neurol"},{"key":"9373_CR22","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1002\/mus.22329","volume":"45","author":"EJ Cupler","year":"2012","unstructured":"Cupler EJ, Berger KI, Leshner RT et al (2012) Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve 45:319\u2013333. \n                    https:\/\/doi.org\/10.1002\/mus.22329","journal-title":"Muscle Nerve"},{"key":"9373_CR23","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1590\/0004-282X20150194","volume":"74","author":"JC Llerena Junior","year":"2016","unstructured":"Llerena Junior JC, Nascimento OJM, Oliveira ASB et al (2016) Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease. Arq Neuropsiquiatr 74:166\u2013176. \n                    https:\/\/doi.org\/10.1590\/0004-282X20150194","journal-title":"Arq Neuropsiquiatr"},{"key":"9373_CR24","doi-asserted-by":"publisher","first-page":"273","DOI":"10.7196\/SAMJ.7386","volume":"104","author":"L Bhengu","year":"2014","unstructured":"Bhengu L, Davidson A, du Toit P et al (2014) Diagnosis and management of Pompe disease. S Afr Med J 104:273\u2013274. \n                    https:\/\/doi.org\/10.7196\/SAMJ.7386","journal-title":"S Afr Med J"},{"key":"9373_CR25","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\u2013e31. \n                    https:\/\/doi.org\/10.1111\/ene.13285","journal-title":"Eur J Neurol"},{"key":"9373_CR26","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1016\/j.nmd.2015.04.006","volume":"25","author":"B Schoser","year":"2015","unstructured":"Schoser B, Lafor\u00eat P, Kruijshaar ME et al (2015) 208th ENMC International Workshop: formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26\u201328 September 2014. Neuromuscul Disord 25:674\u2013678. \n                    https:\/\/doi.org\/10.1016\/j.nmd.2015.04.006","journal-title":"Neuromuscul Disord"},{"key":"9373_CR27","doi-asserted-by":"publisher","first-page":"1","DOI":"10.5166\/jroi-2-1-6","volume":"2","author":"P Putora","year":"2010","unstructured":"Putora P, Blattner M (2010) Dodes (diagnostic nodes) for guideline manipulation. J Radiat Onc Inform 2:1\u20138. \n                    https:\/\/doi.org\/10.5166\/jroi-2-1-6","journal-title":"J Radiat Onc Inform"},{"key":"9373_CR28","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1186\/s13014-014-0270-y","volume":"9","author":"PM Putora","year":"2014","unstructured":"Putora PM, Panje CM, Papachristofilou A et al (2014) Objective consensus from decision trees. Radiat Oncol 9:270. \n                    https:\/\/doi.org\/10.1186\/s13014-014-0270-y","journal-title":"Radiat Oncol"},{"key":"9373_CR29","doi-asserted-by":"publisher","first-page":"e207","DOI":"10.2196\/jmir.2452","volume":"15","author":"PM Putora","year":"2013","unstructured":"Putora PM, Oldenburg J (2013) Swarm-based medicine. J Med Internet Res 15:e207. \n                    https:\/\/doi.org\/10.2196\/jmir.2452","journal-title":"J Med Internet Res"},{"key":"9373_CR30","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1186\/s12874-017-0400-y","volume":"17","author":"CM Panje","year":"2017","unstructured":"Panje CM, Glatzer M, von Rappard J et al (2017) Applied Swarm-based medicine: collecting decision trees for patterns of algorithms analysis. BMC Med Res Methodol 17:123. \n                    https:\/\/doi.org\/10.1186\/s12874-017-0400-y","journal-title":"BMC Med Res Methodol"},{"key":"9373_CR31","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1007\/s11060-015-1957-0","volume":"126","author":"T Hundsberger","year":"2016","unstructured":"Hundsberger T, Hottinger AF, Roelcke U et al (2016) Patterns of care in recurrent glioblastoma in Switzerland: a multicentre national approach based on diagnostic nodes. J Neurooncol 126:175\u2013183. \n                    https:\/\/doi.org\/10.1007\/s11060-015-1957-0","journal-title":"J Neurooncol"},{"key":"9373_CR32","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1186\/s12894-018-0332-9","volume":"18","author":"V Zumstein","year":"2018","unstructured":"Zumstein V, Betschart P, Abt D et al (2018) Surgical management of urolithiasis\u2014a systematic analysis of available guidelines. BMC Urol 18:25. \n                    https:\/\/doi.org\/10.1186\/s12894-018-0332-9","journal-title":"BMC Urol"},{"key":"9373_CR33","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1212\/WNL.0000000000002758","volume":"87","author":"Z Lukacs","year":"2016","unstructured":"Lukacs Z, Cobos PN, Wenninger S et al (2016) Prevalence of Pompe disease in 3076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology 87:295\u2013298. \n                    https:\/\/doi.org\/10.1212\/WNL.0000000000002758","journal-title":"Neurology"},{"key":"9373_CR34","doi-asserted-by":"publisher","first-page":"884","DOI":"10.1002\/mus.24653","volume":"51","author":"A Echaniz-Laguna","year":"2015","unstructured":"Echaniz-Laguna A, Carlier R-Y, Laloui K et al (2015) Should patients with asymptomatic pompe disease be treated? A nationwide study in france. Muscle Nerve 51:884\u2013889. \n                    https:\/\/doi.org\/10.1002\/mus.24653","journal-title":"Muscle Nerve"},{"key":"9373_CR35","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1038\/gim.2016.70","volume":"19","author":"JM De Vries","year":"2017","unstructured":"De Vries JM, Kuperus E, Hoogeveen-Westerveld M et al (2017) Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy. Genet Med 19:90\u201397. \n                    https:\/\/doi.org\/10.1038\/gim.2016.70","journal-title":"Genet Med"},{"key":"9373_CR36","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s13760-019-01097-4","volume":"119","author":"J van Houtte","year":"2019","unstructured":"van Houtte J, De Bleecker JL (2019) Two successfully completed pregnancies in adult onset Pompe disease, under continued treatment with alglucosidase alfa. Acta Neurol Belg 119:1\u20133. \n                    https:\/\/doi.org\/10.1007\/s13760-019-01089-4","journal-title":"Acta Neurol Belg"},{"key":"9373_CR37","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1016\/j.nmd.2018.08.002","volume":"28","author":"M Oliveira Santos","year":"2018","unstructured":"Oliveira Santos M, Evangelista T, Concei\u00e7\u00e3o I (2018) Enzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancy. Neuromuscul Disord 28:965\u2013968. \n                    https:\/\/doi.org\/10.1016\/j.nmd.2018.08.002","journal-title":"Neuromuscul Disord"},{"key":"9373_CR38","doi-asserted-by":"publisher","first-page":"552","DOI":"10.1016\/j.ymgme.2011.09.012","volume":"104","author":"JM de Vries","year":"2011","unstructured":"de Vries JM, Brugma J-DC, \u00d6zkan L et al (2011) First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease. Mol Genet Metab 104:552\u2013555. \n                    https:\/\/doi.org\/10.1016\/j.ymgme.2011.09.012","journal-title":"Mol Genet Metab"},{"key":"9373_CR39","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1007\/s00415-009-5275-3","volume":"257","author":"S Strothotte","year":"2010","unstructured":"Strothotte S, Strigl-Pill N, Grunert B et al (2010) Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol 257:91\u201397. \n                    https:\/\/doi.org\/10.1007\/s00415-009-5275-3","journal-title":"J Neurol"},{"key":"9373_CR40","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. \n                    https:\/\/doi.org\/10.1007\/s00415-016-8219-8","journal-title":"J Neurol"},{"key":"9373_CR41","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1200\/CCI.18.00017","volume":"2","author":"CM Panje","year":"2018","unstructured":"Panje CM, Glatzer M, Sir\u00e9n C et al (2018) Treatment Options in Oncology. JCO Clin cancer informatics 2:1\u201310. \n                    https:\/\/doi.org\/10.1200\/CCI.18.00017","journal-title":"JCO Clin cancer informatics"},{"key":"9373_CR42","doi-asserted-by":"publisher","first-page":"928","DOI":"10.1007\/s13311-018-0655-y","volume":"15","author":"L Kohler","year":"2018","unstructured":"Kohler L, Puertollano R, Raben N (2018) Pompe disease: from basic science to therapy. Neurotherapeutics 15:928\u2013942. \n                    https:\/\/doi.org\/10.1007\/s13311-018-0655-y","journal-title":"Neurotherapeutics"},{"key":"9373_CR43","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1007\/s10545-012-9451-8","volume":"35","author":"C Regnery","year":"2012","unstructured":"Regnery C, Kornblum C, Hanisch F et al (2012) 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis 35:837\u201345. \n                    https:\/\/doi.org\/10.1007\/s10545-012-9451-8","journal-title":"J Inherit Metab Dis"},{"key":"9373_CR44","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-017-0741-y","volume":"13","author":"JC Van Der Meijden","year":"2018","unstructured":"Van Der Meijden JC, Kruijshaar ME, Rizopoulos D et al (2018) Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients. Orphanet J Rare Dis 13:1\u20136. \n                    https:\/\/doi.org\/10.1186\/s13023-018-0824-4","journal-title":"Orphanet J Rare Dis"},{"key":"9373_CR45","doi-asserted-by":"publisher","first-page":"1684","DOI":"10.1007\/s00415-014-7402-z","volume":"261","author":"T Hundsberger","year":"2014","unstructured":"Hundsberger T, R\u00f6sler KM, Findling O (2014) Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis. J Neurol 261:1684\u201390. \n                    https:\/\/doi.org\/10.1007\/s00415-014-7402-z","journal-title":"J Neurol"},{"key":"9373_CR46","doi-asserted-by":"publisher","first-page":"2783","DOI":"10.1007\/s00415-018-9065-7","volume":"265","author":"O Scheidegger","year":"2018","unstructured":"Scheidegger O, Leupold D, Sauter R et al (2018) 36-months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry. J Neurol 265:2783\u20132788. \n                    https:\/\/doi.org\/10.1007\/s00415-018-9065-7","journal-title":"J Neurol"},{"key":"9373_CR47","doi-asserted-by":"publisher","first-page":"456","DOI":"10.1016\/j.ymgme.2012.09.015","volume":"107","author":"AT Van der Ploeg","year":"2012","unstructured":"Van der Ploeg AT, Barohn R, Carlson L et al (2012) Open-label extension study following the late-onset treatment study (LOTS) of alglucosidase alfa. Mol Genet Metab 107:456\u201361. \n                    https:\/\/doi.org\/10.1016\/j.ymgme.2012.09.015","journal-title":"Mol Genet Metab"},{"key":"9373_CR48","doi-asserted-by":"publisher","first-page":"e111","DOI":"10.1111\/ene.13730","volume":"25","author":"Y-H Chien","year":"2018","unstructured":"Chien Y-H, Lee N-C, Hwu W-L, Fang J-Y (2018) Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease\u2014need for an earlier treatment? Eur J Neurol 25:e111\u2013e111. \n                    https:\/\/doi.org\/10.1111\/ene.13730","journal-title":"Eur J Neurol"},{"key":"9373_CR49","doi-asserted-by":"publisher","DOI":"10.1159\/000492272","author":"M Glatzer","year":"2018","unstructured":"Glatzer M, Panje CM, Sir\u00e9n C et al (2018) Decision making criteria in oncology. Oncology. \n                    https:\/\/doi.org\/10.1159\/000492272","journal-title":"Oncology"},{"key":"9373_CR50","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1111\/ene.13835","volume":"26","author":"O Musumeci","year":"2018","unstructured":"Musumeci O, Marino S, Granata F et al (2018) Central nervous system involvement in late onset Pompe disease (LOPD): clues from neuroimaging and neuropsychological analysis. Eur J Neurol 26:442\u2013451. \n                    https:\/\/doi.org\/10.1111\/ene.13835","journal-title":"Eur J Neurol"},{"key":"9373_CR51","doi-asserted-by":"publisher","first-page":"536","DOI":"10.1111\/dmcn.13762","volume":"60","author":"B Schoser","year":"2018","unstructured":"Schoser B (2018) Novel Pompe disease phenotype: a treatment-related modified phenotype neglecting the brain. Dev Med Child Neurol 60:536\u2013536. \n                    https:\/\/doi.org\/10.1111\/dmcn.13762","journal-title":"Dev Med Child Neurol"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-019-09373-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-019-09373-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-019-09373-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,16]],"date-time":"2020-05-16T23:25:27Z","timestamp":1589671527000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-019-09373-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,18]]},"references-count":51,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["9373"],"URL":"https:\/\/doi.org\/10.1007\/s00415-019-09373-2","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"type":"print","value":"0340-5354"},{"type":"electronic","value":"1432-1459"}],"subject":[],"published":{"date-parts":[[2019,5,18]]},"assertion":[{"value":"17 March 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 May 2019","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 May 2019","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 May 2019","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"TH served as a scientific advisor for and received institutional grants from Sanofi Genzyme (Switzerland). BS is a scientific advisor of Audentes Therapeutics. Lupin Therapeutics and Nexien BioPharma, Inc. He received speaker honoraria from Sanofi Genzyme, Amicus therapeutics, and Kedrion. He received unrestricted research grants from Sanofi Genzyme and Grennovation. KMR was a scientific advisor for Sanofi Genzyme (Switzerland) and Biogen Switzerland AG; and has received speaker honoraria from Sanofi Genzyme (Switzerland) and Shire Switzerland GmbH. DL declares no conflict of interest. PMP received institutional research or educational grants from AstraZeneca, Celgene, Sanofi Genzyme and Roche.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"The manuscript does not contain clinical studies or patient data and was done as a literature analysis. Therefore, no formal IRB approval was submitted.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}