{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T12:01:12Z","timestamp":1770897672017,"version":"3.50.1"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2017,11,27]],"date-time":"2017-11-27T00:00:00Z","timestamp":1511740800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2018,1]]},"DOI":"10.1007\/s00415-017-8686-6","type":"journal-article","created":{"date-parts":[[2017,11,27]],"date-time":"2017-11-27T06:46:00Z","timestamp":1511765160000},"page":"159-164","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Pompe disease in Austria: clinical, genetic and epidemiological aspects"],"prefix":"10.1007","volume":"265","author":[{"given":"W. N.","family":"L\u00f6scher","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Huemer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T. M.","family":"Stulnig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Simschitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Iglseder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Eggers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Moser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"M\u00f6slinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Freilinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Lagler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Grinzinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Reichhardt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. E.","family":"Bittner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. M.","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U.","family":"Lex","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Brunner-Krainz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Quasthoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. V.","family":"Wanschitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,11,27]]},"reference":[{"key":"8686_CR1","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1055\/s-0033-1334469","volume":"32","author":"J Teener","year":"2013","unstructured":"Teener J (2013) Late-onset Pompe\u2019s disease. Semin Neurol 32:506\u2013511","journal-title":"Semin Neurol"},{"key":"8686_CR2","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","volume":"372","author":"AT Ploeg van der","year":"2008","unstructured":"van der Ploeg AT, Reuser AJJ (2008) Pompe\u2019s disease. Lancet 372:1342\u20131353","journal-title":"Lancet"},{"key":"8686_CR3","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1542\/peds.112.2.332","volume":"112","author":"HMP Hout van den","year":"2003","unstructured":"van den Hout HMP, Hop W, van Diggelen OP et al (2003) The natural course of infantile Pompe\u2019s disease: 20 original cases compared with 133 cases from the literature. Pediatrics 112:332\u2013340","journal-title":"Pediatrics"},{"key":"8686_CR4","first-page":"141","volume":"34","author":"B Schoser","year":"2015","unstructured":"Schoser B, Lafor\u00eat P, Kruijshaar ME et al (2015) Minutes of the European Pompe Consortium (EPOC) Meeting March 27 to 28, 2015, Munich, Germany. Acta Myol 34:141\u2013143","journal-title":"Acta Myol"},{"key":"8686_CR5","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1016\/j.nmd.2015.04.008","volume":"25","author":"E Guti\u00e9rrez-Rivas","year":"2015","unstructured":"Guti\u00e9rrez-Rivas E, Bautista J, Vilchez JJ et al (2015) Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: a Spanish cohort. Neuromuscul Disord 25:548\u2013553","journal-title":"Neuromuscul Disord"},{"key":"8686_CR6","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1212\/WNL.0000000000002758","volume":"87","author":"Z Lukacs","year":"2016","unstructured":"Lukacs Z, Nieves Cobos P, Wenninger S et al (2016) Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology 87:295\u2013298","journal-title":"Neurology"},{"key":"8686_CR7","doi-asserted-by":"crossref","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":"8686_CR8","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/s10545-015-9898-5","volume":"39","author":"A Broomfield","year":"2015","unstructured":"Broomfield A, Fletcher J, Davison J et al (2015) Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy. J Inherit Metab Dis 39:261\u2013271","journal-title":"J Inherit Metab Dis"},{"key":"8686_CR9","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1056\/NEJMoa0909859","volume":"362","author":"AT Ploeg van der","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","journal-title":"N Engl J Med"},{"key":"8686_CR10","doi-asserted-by":"crossref","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","journal-title":"J Neurol"},{"key":"8686_CR11","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1111\/ene.13285","volume":"24","author":"AT Ploeg Van der","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)","journal-title":"Eur J Neurol"},{"key":"8686_CR12","doi-asserted-by":"publisher","DOI":"10.1111\/ane.12460","author":"C Lindberg","year":"2015","unstructured":"Lindberg C, Anderson B, Engvall M et al (2015) Search for Pompe disease among patients with undetermined myopathies. Acta Neurol Scand. https:\/\/doi.org\/10.1111\/ane.12460","journal-title":"Acta Neurol Scand"},{"key":"8686_CR13","first-page":"5","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 Psychiatr 87:5\u201311","journal-title":"J Neurol Neurosurg Psychiatr"},{"key":"8686_CR14","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1016\/j.nmd.2014.06.438","volume":"24","author":"J Palmio","year":"2014","unstructured":"Palmio J, Auranen M, Kiuru-Enari S et al (2014) Screening for late-onset Pompe disease in Finland. Neuromuscul Disord 24:982\u2013985","journal-title":"Neuromuscul Disord"},{"key":"8686_CR15","doi-asserted-by":"crossref","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","journal-title":"Mol Genet Metab"},{"key":"8686_CR16","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/j.ymgme.2013.08.005","volume":"110","author":"N Preisler","year":"2013","unstructured":"Preisler N, Lukacs Z, Vinge L et al (2013) Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Mol Genet Metab 110:287\u2013289","journal-title":"Mol Genet Metab"},{"key":"8686_CR17","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.ymgme.2013.03.002","volume":"109","author":"M Spada","year":"2013","unstructured":"Spada M, Porta F, Vercelli L et al (2013) Screening for later-onset Pompe\u2019s disease in patients with paucisymptomatic hyperCKemia. Mol Genet Metab 109:171\u2013173","journal-title":"Mol Genet Metab"},{"key":"8686_CR18","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1186\/1750-1172-7-88","volume":"7","author":"NAME Beek van der","year":"2012","unstructured":"van der Beek NAME, de Vries JM, Hagemans MLC 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"},{"key":"8686_CR19","doi-asserted-by":"crossref","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","journal-title":"J Neurol"},{"key":"8686_CR20","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1002\/ajmg.c.31322","volume":"160C","author":"A Sch\u00fcller","year":"2012","unstructured":"Sch\u00fcller A, Wenninger S, Strigl-Pill N, Schoser B (2012) Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet 160C:80\u201388","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"8686_CR21","doi-asserted-by":"crossref","first-page":"2431","DOI":"10.1002\/ajmg.a.36110","volume":"161A","author":"PS Kishnani","year":"2013","unstructured":"Kishnani PS, Amartino HM, Lindberg C et al (2013) Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet 161A:2431\u20132443","journal-title":"Am J Med Genet"},{"key":"8686_CR22","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1750-1172-7-73","volume":"7","author":"JM Vries de","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 7:1","journal-title":"Orphanet J Rare Dis"},{"key":"8686_CR23","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/S0140-6736(11)61266-X","volume":"379","author":"TP Mechtler","year":"2012","unstructured":"Mechtler TP, Stary S, Metz TF et al (2012) Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet 379:335\u2013341","journal-title":"Lancet"},{"key":"8686_CR24","first-page":"1559","volume-title":"Myology","author":"AG Engel","year":"2004","unstructured":"Engel AG, Hirschorn R (2004) Acid maltase Deficiency. In: Engel AG, Franzini-Armstrong C (eds) Myology. McGraw-Hill, New York, pp 1559\u20131586"},{"key":"8686_CR25","doi-asserted-by":"crossref","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","journal-title":"Clin Neurophysiol"},{"key":"8686_CR26","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1002\/mus.24620","volume":"51","author":"CD Kassardjian","year":"2015","unstructured":"Kassardjian CD, Engel AG, Sorenson EJ (2015) Electromyographic findings in 37 patients with adult-onset acid maltase deficiency. Muscle Nerve 51:759\u2013761","journal-title":"Muscle Nerve"},{"key":"8686_CR27","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1212\/WNL.55.8.1122","volume":"55","author":"P Laforet","year":"2000","unstructured":"Laforet P, Nicolino M, Eymard PB et al (2000) Juvenile and adult-onset acid maltase deficiency in France: genotype\u2013phenotype correlation. Neurology 55:1122\u20131128","journal-title":"Neurology"},{"key":"8686_CR28","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1016\/j.nmd.2007.06.002","volume":"17","author":"W M\u00fcller-Felber","year":"2007","unstructured":"M\u00fcller-Felber W, Horvath R, Gempel K et al (2007) Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord 17:698\u2013706","journal-title":"Neuromuscul Disord"},{"key":"8686_CR29","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1186\/1750-1172-7-35","volume":"7","author":"A Herzog","year":"2012","unstructured":"Herzog A, Hartung R, Reuser AJJ et al (2012) A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype\u2013phenotype correlations. Orphanet J Rare Dis 7:35","journal-title":"Orphanet J Rare Dis"},{"key":"8686_CR30","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1002\/mus.21025","volume":"38","author":"JHJ Wokke","year":"2008","unstructured":"Wokke JHJ, Escolar DM, Pestronk A et al (2008) Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve 38:1236\u20131245","journal-title":"Muscle Nerve"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-017-8686-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-017-8686-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-017-8686-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,29]],"date-time":"2024-06-29T02:09:11Z","timestamp":1719626951000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-017-8686-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,27]]},"references-count":30,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["8686"],"URL":"https:\/\/doi.org\/10.1007\/s00415-017-8686-6","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11,27]]}}}