{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T23:30:23Z","timestamp":1781652623251,"version":"3.54.5"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,11,20]],"date-time":"2023-11-20T00:00:00Z","timestamp":1700438400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,11,20]],"date-time":"2023-11-20T00:00:00Z","timestamp":1700438400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Helen Walker Research Grant"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Patients with Pompe disease, a rare metabolic myopathy, were thought to be at increased risk of severe COVID-19 disease during the pandemic. In addition, the lockdown may have affected their regular treatment.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Objective<\/jats:title>\n                <jats:p>To assess the perceived effect of COVID-19 infection and of the pandemic on the treatment, and physical and mental health of patients with Pompe disease.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Patients with Pompe disease over 16\u00a0years of age participated in an international, cross-sectional, online survey (September 20, 2022\u2013November 7, 2022). The questionnaire, available in eight languages, consisted of 89 questions divided into 3 parts: (A) severity of Pompe disease, (B) COVID-19 precautions and infection(s) and (C) effects of the COVID-19 pandemic.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Among 342 respondents, originating from 25 different countries, 47.6% experienced one or more COVID-19 infections. While most recovered within 4 weeks (69.7%) and only eight patients needed to be admitted to the hospital, 42.2% of patients experienced an impact of the infection on their overall condition, respiratory status and\/or mobility status. More severely affected patients took more stringent control measures. The pandemic additionally caused interruptions in medical care in many patients (56.0%) and 17.2% of patients experienced interruptions of enzyme replacement therapy. The pandemic also affected many patients\u2019 disease severity (27.7%), mental health (55.4%) and feeling of loneliness (43.4%).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>COVID-19 infection(s) and the pandemic affected the treatment, physical health and mental health of patients with Pompe disease, emphasizing the importance of continued patient centered care during a difficult time such as the COVID-19 pandemic.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00415-023-11999-2","type":"journal-article","created":{"date-parts":[[2023,11,20]],"date-time":"2023-11-20T16:02:26Z","timestamp":1700496146000},"page":"32-45","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease"],"prefix":"10.1007","volume":"271","author":[{"given":"Maudy T. M.","family":"Theunissen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renee M.","family":"van den Elsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiffany L.","family":"House","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brad","family":"Crittenden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pieter A.","family":"van Doorn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ans T.","family":"van der Ploeg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle E.","family":"Kruijshaar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9161-3301","authenticated-orcid":false,"given":"Nadine A. M. E.","family":"van der Beek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,11,20]]},"reference":[{"key":"11999_CR1","unstructured":"Hirschhorn R, Reuser AJ. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001."},{"issue":"5","key":"11999_CR2","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/j.jpeds.2005.11.033","volume":"148","author":"PS Kishnani","year":"2006","unstructured":"Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D et al (2006) A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 148(5):671\u2013676","journal-title":"J Pediatr"},{"issue":"9646","key":"11999_CR3","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(9646):1342\u20131353","journal-title":"Lancet"},{"key":"11999_CR4","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1186\/1750-1172-7-88","volume":"7","author":"NA van der Beek","year":"2012","unstructured":"van der Beek NA, de Vries JM, Hagemans ML, Hop WC, Kroos MA, Wokke JH et al (2012) Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis 7:88","journal-title":"Orphanet J Rare Dis"},{"issue":"15","key":"11999_CR5","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, Escolar DM, Florence J, Groeneveld GJ et al (2010) A randomized study of alglucosidase alfa in late-onset Pompe\u2019s disease. N Engl J Med 362(15):1396\u20131406","journal-title":"N Engl J Med"},{"issue":"5","key":"11999_CR6","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, Goker-Alpan O, Kishnani PS, Ladha S et al (2022) Long-term safety and efficacy of avalglucosidase alfa in patients with late-onset Pompe disease. Neurology 99(5):e536\u2013e548","journal-title":"Neurology"},{"issue":"12","key":"11999_CR7","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, Ladha S, Mozaffar T, Straub V 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(12):1012\u20131026","journal-title":"Lancet Neurol"},{"issue":"12","key":"11999_CR8","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, Sitaraman S, Jiang H, Laforet P 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(12):1027\u20131037","journal-title":"Lancet Neurol"},{"issue":"19","key":"11999_CR9","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, Kruijshaar ME, Rizopoulos D, Taouagh N et al (2019) Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease. Neurology 93(19):e1756\u2013e1767","journal-title":"Neurology"},{"issue":"3","key":"11999_CR10","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, Charrow J, Clemens PR, Hopkin RJ et al (2012) Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa. Mol Genet Metab 107(3):456\u2013461","journal-title":"Mol Genet Metab"},{"issue":"4","key":"11999_CR11","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1016\/j.ymgme.2016.01.013","volume":"117","author":"KM Stepien","year":"2016","unstructured":"Stepien KM, Hendriksz CJ, Roberts M, Sharma R (2016) Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5 years. Mol Genet Metab 117(4):413\u2013418","journal-title":"Mol Genet Metab"},{"issue":"5","key":"11999_CR12","doi-asserted-by":"publisher","first-page":"952","DOI":"10.1007\/s00415-011-6293-5","volume":"259","author":"C Angelini","year":"2012","unstructured":"Angelini C, Semplicini C, Ravaglia S, Bembi B, Servidei S, Pegoraro E et al (2012) Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. J Neurol 259(5):952\u2013958","journal-title":"J Neurol"},{"issue":"23","key":"11999_CR13","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, de Vries JM, Favejee MM, van der Meijden JC et al (2017) Long-term benefit of enzyme replacement therapy in Pompe disease: a 5-year prospective study. Neurology 89(23):2365\u20132373","journal-title":"Neurology"},{"issue":"5","key":"11999_CR14","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, Vielhaber S, Strigl-Pill N, Grunert B 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(5):837\u2013845","journal-title":"J Inherit Metab Dis"},{"key":"11999_CR15","unstructured":"COVID-19-China: WHO; 2020 [updated 12 January 2020]. https:\/\/www.who.int\/emergencies\/disease-outbreak-news\/item\/2020-DON233 Accessed 1 Mar 2023"},{"issue":"2","key":"11999_CR16","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1177\/10998004211055866","volume":"24","author":"M Al Maqbali","year":"2022","unstructured":"Al Maqbali M, Al Badi K, Al Sinani M, Madkhali N, Dickens GL (2022) Clinical features of COVID-19 patients in the first year of pandemic: a systematic review and meta-analysis. Biol Res Nurs 24(2):172\u2013185","journal-title":"Biol Res Nurs"},{"issue":"10223","key":"11999_CR17","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1016\/S0140-6736(20)30183-5","volume":"395","author":"C Huang","year":"2020","unstructured":"Huang C, Wang Y, Li X, Ren L, Zhao J, Hu Y et al (2020) Clinical features of patients infected with 2019 novel coronavirus in Wuhan. China Lancet 395(10223):497\u2013506","journal-title":"China Lancet"},{"issue":"18","key":"11999_CR18","doi-asserted-by":"publisher","first-page":"1708","DOI":"10.1056\/NEJMoa2002032","volume":"382","author":"WJ Guan","year":"2020","unstructured":"Guan WJ, Ni ZY, Hu Y, Liang WH, Ou CQ, He JX et al (2020) Clinical characteristics of coronavirus disease 2019 in China. N Engl J Med 382(18):1708\u20131720","journal-title":"N Engl J Med"},{"key":"11999_CR19","unstructured":"WHO (2023) COVID-19 Dashboard: World Health Organization; 2020 [updated 21 March 2023]. https:\/\/covid19.who.int\/ Accessed 17 July 2023"},{"issue":"1","key":"11999_CR20","doi-asserted-by":"publisher","first-page":"855","DOI":"10.1186\/s12879-021-06536-3","volume":"21","author":"ZG Dessie","year":"2021","unstructured":"Dessie ZG, Zewotir T (2021) Mortality-related risk factors of COVID-19: a systematic review and meta-analysis of 42 studies and 423,117 patients. BMC Infect Dis 21(1):855","journal-title":"BMC Infect Dis"},{"issue":"1","key":"11999_CR21","doi-asserted-by":"publisher","first-page":"9784","DOI":"10.1038\/s41598-021-89182-8","volume":"11","author":"HJ Kim","year":"2021","unstructured":"Kim HJ, Hwang H, Hong H, Yim JJ, Lee J (2021) A systematic review and meta-analysis of regional risk factors for critical outcomes of COVID-19 during early phase of the pandemic. Sci Rep 11(1):9784","journal-title":"Sci Rep"},{"key":"#cr-split#-11999_CR22.1","unstructured":"Damian MS (2022) COVID-19 and people with neuromuscular disorders: World Muscle Society position and advice: World Muscle Society"},{"key":"#cr-split#-11999_CR22.2","unstructured":"2022 [updated 23 April 2022]. https:\/\/www.worldmusclesociety.org\/file\/23c61b33-ca24-4fd4-a82f-d03b8dbaf4df\/2022-04-23-WMS-Covid-19-advice.pdf Accessed 1 Mar 2023"},{"issue":"13","key":"11999_CR23","doi-asserted-by":"publisher","first-page":"285","DOI":"10.21037\/atm.2019.05.27","volume":"7","author":"AK Desai","year":"2019","unstructured":"Desai AK, Li C, Rosenberg AS, Kishnani PS (2019) Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review. Ann Transl Med 7(13):285","journal-title":"Ann Transl Med"},{"issue":"1","key":"11999_CR24","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1186\/s13023-022-02268-y","volume":"17","author":"G Ismailova","year":"2022","unstructured":"Ismailova G, Mackenbach MJ, van den Hout JMP, van der Ploeg AT, Brusse E, Wagenmakers M (2022) Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: a cohort description. Orphanet J Rare Dis 17(1):102","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"11999_CR25","doi-asserted-by":"publisher","first-page":"334","DOI":"10.1002\/mus.27482","volume":"65","author":"J Avelar","year":"2022","unstructured":"Avelar J, Wencel M, Chumakova A, Mozaffar T (2022) COVID-19 infection in patients with late-onset Pompe disease. Muscle Nerve 65(3):334\u2013336","journal-title":"Muscle Nerve"},{"key":"11999_CR26","doi-asserted-by":"publisher","DOI":"10.1136\/bmj-2021-068302","volume":"375","author":"S Talic","year":"2021","unstructured":"Talic S, Shah S, Wild H, Gasevic D, Maharaj A, Ademi Z et al (2021) Effectiveness of public health measures in reducing the incidence of covid-19, SARS-CoV-2 transmission, and covid-19 mortality: systematic review and meta-analysis. BMJ 375:e068302","journal-title":"BMJ"},{"issue":"11","key":"11999_CR27","doi-asserted-by":"publisher","first-page":"1560","DOI":"10.7326\/M22-1507","volume":"175","author":"G Salanti","year":"2022","unstructured":"Salanti G, Peter N, Tonia T, Holloway A, White IR, Darwish L et al (2022) The impact of the COVID-19 pandemic and associated control measures on the mental health of the general population: a systematic review and dose-response meta-analysis. Ann Intern Med 175(11):1560\u20131571","journal-title":"Ann Intern Med"},{"issue":"4","key":"11999_CR28","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1002\/mus.27378","volume":"64","author":"D Gagliardi","year":"2021","unstructured":"Gagliardi D, Costamagna G, Abati E, Mauri E, Brusa R, Scudeller L et al (2021) Impact of COVID-19 on the quality of life of patients with neuromuscular disorders in the Lombardy area, Italy. Muscle Nerve 64(4):474\u2013482","journal-title":"Muscle Nerve"},{"issue":"6","key":"11999_CR29","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1590\/0004-282x-anp-2021-0166","volume":"80","author":"CAM Moreno","year":"2022","unstructured":"Moreno CAM, Camelo CG, Sampaio P, Fonseca A, Estephan EP, Silva AMS et al (2022) Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders. Arq Neuropsiquiatr 80(6):563\u2013569","journal-title":"Arq Neuropsiquiatr"},{"issue":"3","key":"11999_CR30","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2021-055430","volume":"12","author":"L Spurr","year":"2022","unstructured":"Spurr L, Tan HL, Wakeman R, Chatwin M, Hughes Z, Simonds A (2022) Psychosocial impact of the COVID-19 pandemic and shielding in adults and children with early-onset neuromuscular and neurological disorders and their families: a mixed-methods study. BMJ Open 12(3):e055430","journal-title":"BMJ Open"},{"issue":"6","key":"11999_CR31","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0253715","volume":"16","author":"C Handberg","year":"2021","unstructured":"Handberg C, Werlauff U, Hojberg AL, Knudsen LF (2021) Impact of the COVID-19 pandemic on biopsychosocial health and quality of life among Danish children and adults with neuromuscular diseases (NMD)-patient reported outcomes from a national survey. PLoS ONE 16(6):e0253715","journal-title":"PLoS ONE"},{"issue":"22","key":"11999_CR32","doi-asserted-by":"publisher","first-page":"959","DOI":"10.1212\/WNL.0000000000009566","volume":"94","author":"AC Guidon","year":"2020","unstructured":"Guidon AC, Amato AA (2020) COVID-19 and neuromuscular disorders. Neurology 94(22):959\u2013969","journal-title":"Neurology"},{"issue":"6","key":"11999_CR33","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1016\/j.neurol.2020.04.004","volume":"176","author":"G Sole","year":"2020","unstructured":"Sole G, Salort-Campana E, Pereon Y, Stojkovic T, Wahbi K, Cintas P et al (2020) Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network. Rev Neurol (Paris) 176(6):507\u2013515","journal-title":"Rev Neurol (Paris)"},{"issue":"4","key":"11999_CR34","doi-asserted-by":"publisher","first-page":"1181","DOI":"10.1111\/ene.15222","volume":"29","author":"C Tard","year":"2022","unstructured":"Tard C, Salort-Campana E, Michaud M, Spinazzi M, Nadaj Pakleza A, Durr H et al (2022) Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic. Eur J Neurol 29(4):1181\u20131186","journal-title":"Eur J Neurol"},{"issue":"8","key":"11999_CR35","doi-asserted-by":"publisher","first-page":"2943","DOI":"10.1007\/s00415-021-10475-z","volume":"268","author":"S Wenninger","year":"2021","unstructured":"Wenninger S, Gutschmidt K, Wirner C, Einvag K, Montagnese F, Schoser B (2021) The impact of interrupting enzyme replacement therapy in late-onset Pompe disease. J Neurol 268(8):2943\u20132950","journal-title":"J Neurol"},{"issue":"3","key":"11999_CR36","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1007\/s10545-014-9751-2","volume":"38","author":"JC van der Meijden","year":"2015","unstructured":"van der Meijden JC, Gungor D, Kruijshaar ME, Muir AD, Broekgaarden HA, van der Ploeg AT (2015) Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease. J Inherit Metab Dis 38(3):495\u2013503","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"11999_CR37","doi-asserted-by":"publisher","first-page":"450","DOI":"10.1186\/s13023-021-02090-y","volume":"16","author":"LI Pisella","year":"2021","unstructured":"Pisella LI, Fernandes S, Sole G, Stojkovic T, Tard C, Chanson JB et al (2021) A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases. Orphanet J Rare Dis 16(1):450","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"11999_CR38","doi-asserted-by":"publisher","first-page":"14946","DOI":"10.1038\/s41598-021-94434-8","volume":"11","author":"ME Beutel","year":"2021","unstructured":"Beutel ME, Hettich N, Ernst M, Schmutzer G, Tibubos AN, Braehler E (2021) Mental health and loneliness in the German general population during the COVID-19 pandemic compared to a representative pre-pandemic assessment. Sci Rep 11(1):14946","journal-title":"Sci Rep"},{"issue":"1","key":"11999_CR39","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1186\/s13023-020-01469-7","volume":"15","author":"M Yuan","year":"2020","unstructured":"Yuan M, Andrinopoulou ER, Kruijshaar ME, Lika A, Harlaar L, van der Ploeg AT et al (2020) Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study. Orphanet J Rare Dis 15(1):232","journal-title":"Orphanet J Rare Dis"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-023-11999-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-023-11999-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-023-11999-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,5]],"date-time":"2024-01-05T16:19:54Z","timestamp":1704471594000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-023-11999-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,20]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["11999"],"URL":"https:\/\/doi.org\/10.1007\/s00415-023-11999-2","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,20]]},"assertion":[{"value":"28 July 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 September 2023","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 September 2023","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 November 2023","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"A.T.v.d.P. has received funding for research, clinical trials and advisory fees from Sanofi, Amicus Therapeutics, Spark Therapeutics, Denali Therapeutics and Takeda working on ERT or next-generation therapies in the field of Pompe disease, other lysosomal storage diseases or neuromuscular disorders, under agreements with Erasmus MC University Medical Center and the relevant industry. N.A.M.E.v.d.B has received speaker honorarium and research funding from Sanofi, under agreements with Erasmus MC University Medical Center and the relevant industry. The other authors have no relevant financial or non-financial interests to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"This is an observational study. This study design was submitted for approval by the Medical Ethics Committee of the Erasmus MC University Medical Center. It was labeled as not subject to Medical Research Involving Human Subjects Act (WMO) on the June 28, 2022 (MEC-2022-0411).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent was obtained from all individual participants included in the study. This was done by providing online informed consent by checking the consent question in the online questionnaire.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Anonymized data are available from the corresponding author on request by a qualified academic investigator. Data transfer will be in agreement with EU legislation on the general data protection regulation and decisions by the Ethical Review Board of the Erasmus\u00a0 MC University Medical Center.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Rights and permissions"}}]}}