{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T21:47:12Z","timestamp":1762033632887,"version":"3.37.3"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2019,6,11]],"date-time":"2019-06-11T00:00:00Z","timestamp":1560211200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2019,6,11]],"date-time":"2019-06-11T00:00:00Z","timestamp":1560211200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100004329","name":"Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2019,9]]},"DOI":"10.1007\/s00415-019-09401-1","type":"journal-article","created":{"date-parts":[[2019,6,11]],"date-time":"2019-06-11T15:24:25Z","timestamp":1560266665000},"page":"2312-2321","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Forced vital capacity and cross-domain late-onset Pompe disease outcomes: an individual patient-level data meta-analysis"],"prefix":"10.1007","volume":"266","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4879-6071","authenticated-orcid":false,"given":"Kenneth I.","family":"Berger","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steve","family":"Kanters","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeroen P.","family":"Jansen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"Stewart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Sparks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristina An","family":"Haack","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Bolzani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaye","family":"Siliman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alaa","family":"Hamed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,6,11]]},"reference":[{"key":"9401_CR1","first-page":"3389","volume-title":"The metabolic and molecular bases of inherited disease","author":"R Hirschhorn","year":"2001","unstructured":"Hirschhorn R, Reuser A (2001) Glycogen Storage Disease Type II: Acid Alpha-glucosidase (Acid Maltase) Deficiency. In: Scriver C, Beaudet A, Sly W, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3389\u20133420","edition":"8"},{"issue":"12","key":"9401_CR2","doi-asserted-by":"publisher","first-page":"2139","DOI":"10.1212\/01.WNL.0000165979.46537.56","volume":"64","author":"ML Hagemans","year":"2005","unstructured":"Hagemans ML, Winkel LP, Hop WC, Reuser AJ, Van Doorn PA, Van der Ploeg AT (2005) Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology 64(12):2139\u20132141","journal-title":"Neurology"},{"issue":"15","key":"9401_CR3","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's disease. N Engl J Med 362(15):1396\u20131406","journal-title":"N Engl J Med"},{"issue":"3","key":"9401_CR4","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 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":"1","key":"9401_CR5","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1016\/j.ymgme.2014.02.015","volume":"112","author":"CS Andreassen","year":"2014","unstructured":"Andreassen CS, Schlutter JM, Vissing J, Andersen H (2014) Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease\u2014a long-term follow-up. Mol Genet Metab 112(1):40\u201343","journal-title":"Mol Genet Metab"},{"issue":"9","key":"9401_CR6","doi-asserted-by":"publisher","first-page":"1684","DOI":"10.1007\/s00415-014-7402-z","volume":"261","author":"T Hundsberger","year":"2014","unstructured":"Hundsberger T, Rosler KM, Findling O (2014) Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis. J Neurol 261(9):1684\u20131690","journal-title":"J Neurol"},{"issue":"7","key":"9401_CR7","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1016\/j.nmd.2011.04.001","volume":"21","author":"D Orlikowski","year":"2011","unstructured":"Orlikowski D et al (2011) Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease. Neuromuscul Disord 21(7):477\u2013482","journal-title":"Neuromuscul Disord"},{"issue":"4","key":"9401_CR8","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1016\/j.clineuro.2010.12.005","volume":"113","author":"GK Papadimas","year":"2011","unstructured":"Papadimas GK, Spengos K, Konstantinopoulou A et al (2011) Adult Pompe disease: Clinical manifestations and outcome of the first Greek patients receiving enzyme replacement therapy. Clin Neurol Neurosurg 113(4):303\u2013307","journal-title":"Clin Neurol Neurosurg"},{"key":"9401_CR9","doi-asserted-by":"crossref","first-page":"S27","DOI":"10.3233\/JND-159025","volume":"2","author":"M Restel","year":"2015","unstructured":"Restel M, Bochy\u0144ska A, Chahwan M et al (2015) Enzymatic replacement therapy in patients with Late-Onset Pompe disease\u20145-year follow up. J Neuromuscul Dis 2:S27\u2013S27","journal-title":"J Neuromuscul Dis"},{"issue":"2","key":"9401_CR10","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1111\/j.1468-1331.2008.02377.x","volume":"16","author":"T Merk","year":"2009","unstructured":"Merk T, Wibmer T, Schumann C, Kruger S (2009) Glycogen storage disease type II (Pompe disease)\u2014influence of enzyme replacement therapy in adults. Eur J Neurol 16(2):274\u2013277","journal-title":"Eur J Neurol"},{"issue":"5","key":"9401_CR11","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1016\/j.clineuro.2010.09.016","volume":"113","author":"S Vielhaber","year":"2011","unstructured":"Vielhaber S, Brejova A, Debska-Vielhaber G et al (2011) 24-months results in two adults with Pompe disease on enzyme replacement therapy. Clin Neurol Neurosurg 113(5):350\u2013357","journal-title":"Clin Neurol Neurosurg"},{"issue":"5","key":"9401_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 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":"3","key":"9401_CR13","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1177\/1756285609103324","volume":"2","author":"C Angelini","year":"2009","unstructured":"Angelini C, Semplicini C, Tonin P et al (2009) Progress in enzyme replacement therapy in glycogen storage disease type II. Ther Adv Neurol Disord. 2(3):143\u2013153","journal-title":"Ther Adv Neurol Disord."},{"issue":"6","key":"9401_CR14","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1007\/s00431-013-2258-2","volume":"173","author":"L Deroma","year":"2014","unstructured":"Deroma L, Guerra M, Sechi A et al (2014) Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study. Eur J Pediatr. 173(6):805\u2013813","journal-title":"Eur J Pediatr."},{"issue":"4","key":"9401_CR15","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(4):968\u2013978","journal-title":"J Neurol."},{"issue":"2","key":"9401_CR16","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/j.nmd.2008.11.007","volume":"19","author":"NAME Van der Beek","year":"2009","unstructured":"Van der Beek NAME, Hagemans MLC, Reuser AJJ et al (2009) Rate of disease progression during long-term follow-up of patients with Late-Onset Pompe disease. Neuromuscul Disord 19(2):113\u2013117","journal-title":"Neuromuscul Disord"},{"key":"9401_CR17","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780198524847.001.0001","volume-title":"Analysis of longitudinal data","author":"P Diggle","year":"2002","unstructured":"Diggle P (2002) Analysis of longitudinal data. OUP, Oxford"},{"key":"9401_CR18","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1183\/09031936.00194909","volume":"37","author":"C Casanova","year":"2011","unstructured":"Casanova C, Celli B, Barria P et al (2011) The 6-min walk distance in healthy subjects: reference standards from seven countries. Eur Respir J 37:150\u2013156","journal-title":"Eur Respir J"},{"issue":"3","key":"9401_CR19","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1016\/j.ymgme.2013.06.023","volume":"110","author":"M Gaeta","year":"2013","unstructured":"Gaeta M, Barca E, Ruggeri P et al (2013) Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function. Mol Genet Metab 110(3):290\u2013296","journal-title":"Mol Genet Metab"},{"issue":"3","key":"9401_CR20","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1016\/j.ymgme.2012.04.027","volume":"106","author":"TT Patel","year":"2012","unstructured":"Patel TT, Banugaria SG, Case LE, Wenninger S, Schoser B, Kishnani PS (2012) The impact of antibodies in late-onset Pompe disease: a case series and literature review. Mol Genet Metab 106(3):301\u2013309","journal-title":"Mol Genet Metab"},{"issue":"6","key":"9401_CR21","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1016\/j.nmd.2008.04.009","volume":"18","author":"CI van Capelle","year":"2008","unstructured":"van Capelle CI, Winkel L, Hagemans M et al (2008) Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease. Neuromuscul Disord 18(6):447\u2013452","journal-title":"Neuromuscul Disord"},{"issue":"12","key":"9401_CR22","doi-asserted-by":"publisher","first-page":"775","DOI":"10.1016\/j.nmd.2010.07.277","volume":"20","author":"CI van Capelle","year":"2010","unstructured":"van Capelle CI, van der Beek NAME, Hagemans MLC et al (2010) Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study. Neuromuscul Disord 20(12):775\u2013782","journal-title":"Neuromuscul Disord"},{"issue":"5","key":"9401_CR23","doi-asserted-by":"publisher","first-page":"948","DOI":"10.1183\/09031936.05.00035205","volume":"26","author":"R Pellegrino","year":"2005","unstructured":"Pellegrino R, Viegi G, Brusasco V et al (2005) Interpretative strategies for lung function tests. Eur Respir J 26(5):948\u2013968","journal-title":"Eur Respir J"},{"issue":"9","key":"9401_CR24","doi-asserted-by":"publisher","first-page":"1688","DOI":"10.1212\/01.WNL.0000142597.69707.78","volume":"63","author":"ML Hagemans","year":"2004","unstructured":"Hagemans ML, Janssens AC, Winkel LP et al (2004) Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology 63(9):1688\u20131692","journal-title":"Neurology"},{"key":"9401_CR25","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/s13023-015-0334-6","volume":"10","author":"TA Kanters","year":"2015","unstructured":"Kanters TA, Redekop WK, Rutten-Van M\u00f6lken M et al (2015) A conceptual disease model for adult Pompe disease. Orphanet J Rare Dis 10:5","journal-title":"Orphanet J Rare Dis"},{"key":"9401_CR26","doi-asserted-by":"crossref","unstructured":"Schoser B, Stewart A, Kanters S et al (2016) Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. J Neurol","DOI":"10.1007\/s00415-016-8219-8"},{"issue":"4","key":"9401_CR27","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(4):951\u2013959","journal-title":"J Neurol"},{"issue":"Suppl 7","key":"9401_CR28","first-page":"81","volume":"80","author":"H Ilieva","year":"2013","unstructured":"Ilieva H, Vora N, Simpson E (2013) Initial maximal inspiratory pressure (MIP) and forced vital capacity (FVC) correlate with disability levels at times of ALS diagnosis (P07081). Neurology 80(Suppl 7):81","journal-title":"Neurology"},{"issue":"10","key":"9401_CR29","doi-asserted-by":"publisher","first-page":"1327","DOI":"10.1016\/j.apmr.2006.06.015","volume":"87","author":"NB Jain","year":"2006","unstructured":"Jain NB, Brown R, Tun CG, Gagnon D, Garshick E (2006) Determinants of forced expiratory volume in 1 second (FEV1), forced vital capacity (FVC), and FEV1\/FVC in chronic spinal cord injury. Arch Phys Med Rehabil 87(10):1327\u20131333","journal-title":"Arch Phys Med Rehabil"},{"issue":"4","key":"9401_CR30","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1164\/rccm.166.4.518","volume":"166","author":"ATS\/ERS Statement on respiratory muscle testing","year":"2002","unstructured":"ATS\/ERS Statement on respiratory muscle testing (2002) Am J Respir Crit Care Med 166(4):518\u2013624","journal-title":"Am J Respir Crit Care Med"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-019-09401-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-019-09401-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-019-09401-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,19]],"date-time":"2024-07-19T15:15:20Z","timestamp":1721402120000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-019-09401-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,11]]},"references-count":30,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["9401"],"URL":"https:\/\/doi.org\/10.1007\/s00415-019-09401-1","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"type":"print","value":"0340-5354"},{"type":"electronic","value":"1432-1459"}],"subject":[],"published":{"date-parts":[[2019,6,11]]},"assertion":[{"value":"10 January 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 May 2019","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 May 2019","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 June 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":"AH, AS, SS, and KAH are employees of Sanofi Genzyme and stockholders of Sanofi. SK, JJ, AB and GS are employees of Precision Health Economics, a research consulting firm, and hold no Sanofi stock. KB has served as a consultant to Biomarin, Sanofi-Genzyme, and PulmOne.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"All studies in this review have been approved by the appropriate ethics committee and have therefore been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical standards"}}]}}