{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T10:49:00Z","timestamp":1769597340441,"version":"3.49.0"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":43,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100004339","name":"Sanofi","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004339","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Neurol Scand"],"published-print":{"date-parts":[[2016,2]]},"DOI":"10.1111\/ane.12460","type":"journal-article","created":{"date-parts":[[2015,7,20]],"date-time":"2015-07-20T08:04:52Z","timestamp":1437379492000},"page":"131-135","source":"Crossref","is-referenced-by-count":14,"title":["Search for Pompe disease among patients with undetermined myopathies"],"prefix":"10.1155","volume":"133","author":[{"given":"C.","family":"Lindberg","sequence":"first","affiliation":[{"name":"Department of Clinical Neuroscience and Physiology; Section\u00a0of Neurology; The Sahlgrenska Academy at University of Gothenburg; Sahlgrenska University Hospital; Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Anderson","sequence":"additional","affiliation":[{"name":"Department of Clinical Neuroscience and Physiology; Section\u00a0of Neurology; The Sahlgrenska Academy at University of Gothenburg; Sahlgrenska University Hospital; Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Engvall","sequence":"additional","affiliation":[{"name":"Centre for Inherited Metabolic Diseases; Karolinska University Hospital Stockholm; Stockholm Sweden"},{"name":"Department of molecular medicine and surgery; Karolinska Institute; Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Hult","sequence":"additional","affiliation":[{"name":"Centre for Inherited Metabolic Diseases; Karolinska University Hospital Stockholm; Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Oldfors","sequence":"additional","affiliation":[{"name":"Department of Pathology; Institute of Biomedicine; The Sahlgrenska Academy at University of Gothenburg; Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,7,20]]},"reference":[{"key":"10.1111\/ane.12460-BIB0001|ane12460-cit-0001","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/s11910-007-0024-4","article-title":"Acid alpha-glucosidase deficiency (Pompe disease)","volume":"7","author":"Fukuda","year":"2007","journal-title":"Curr Neurol Neurosci Rep"},{"key":"10.1111\/ane.12460-BIB0002|ane12460-cit-0002","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","article-title":"Pompe's disease","volume":"372","author":"Ploeg","year":"2008","journal-title":"Lancet"},{"key":"10.1111\/ane.12460-BIB0003|ane12460-cit-0003","first-page":"3389","volume-title":"The metabolic and molecular bases of inherited disease","author":"Hirschhorn","year":"2001","edition":"8"},{"key":"10.1111\/ane.12460-BIB0004|ane12460-cit-0004","doi-asserted-by":"crossref","first-page":"2139","DOI":"10.1212\/01.WNL.0000165979.46537.56","article-title":"Disease severity in children and adults with Pompe disease related to age and disease duration","volume":"64","author":"Hagemans","year":"2005","journal-title":"Neurology"},{"key":"10.1111\/ane.12460-BIB0005|ane12460-cit-0005","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1093\/brain\/awh384","article-title":"Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients","volume":"128","author":"Hagemans","year":"2005","journal-title":"Brain"},{"key":"10.1111\/ane.12460-BIB0006|ane12460-cit-0006","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1007\/s00415-005-0922-9","article-title":"The natural course of non-classic Pompe's disease; a review of 225 published cases","volume":"252","author":"Winkel","year":"2005","journal-title":"J Neurol"},{"key":"10.1111\/ane.12460-BIB0007|ane12460-cit-0007","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1111\/j.1365-2990.2007.00839.x","article-title":"Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited","volume":"33","author":"Schoser","year":"2007","journal-title":"Neuropathol Appl Neurobiol"},{"key":"10.1111\/ane.12460-BIB0008|ane12460-cit-0008","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1097\/01.gim.0000218152.87434.f3","article-title":"Pompe disease diagnosis and management guideline","volume":"8","author":"Kishnani","year":"2006","journal-title":"Genet Med"},{"key":"10.1111\/ane.12460-BIB0009|ane12460-cit-0009","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1002\/mus.21393","article-title":"American Association of Neuromuscular and Electrodiagnostic Medicine. Diagnostic criteria for late-onset (childhood and adult) Pompe disease","volume":"40","author":"Al-Lozi","year":"2009","journal-title":"Muscle Nerve"},{"key":"10.1111\/ane.12460-BIB0010|ane12460-cit-0010","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.ymgme.2007.09.006","article-title":"Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting","volume":"93","author":"Winchester","year":"2008","journal-title":"Mol Genet Metab"},{"key":"10.1111\/ane.12460-BIB0011|ane12460-cit-0011","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1002\/mus.21376","article-title":"Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory","volume":"40","author":"Goldstein","year":"2009","journal-title":"Muscle Nerve"},{"key":"10.1111\/ane.12460-BIB0012|ane12460-cit-0012","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1136\/jmg.2010.088096","article-title":"Screening patients referred to a metabolic clinic for lysosomal storage disorders","volume":"48","author":"Fuller","year":"2011","journal-title":"J Med Genet"},{"key":"10.1111\/ane.12460-BIB0013|ane12460-cit-0013","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/j.ymgme.2006.12.006","article-title":"Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots","volume":"90","author":"Kallwass","year":"2007","journal-title":"Mol Genet Metab"},{"key":"10.1111\/ane.12460-BIB0014|ane12460-cit-0014","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.nmd.2004.10.009","article-title":"Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial","volume":"15","author":"Klinge","year":"2005","journal-title":"Neuromuscul Disord"},{"key":"10.1111\/ane.12460-BIB0015|ane12460-cit-0015","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1002\/ana.20019","article-title":"Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up","volume":"55","author":"Winkel","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1111\/ane.12460-BIB0016|ane12460-cit-0016","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1056\/NEJMoa0909859","article-title":"A randomized study of aglucosidase alfa in late-onset Pompe\u2032s disease","volume":"362","author":"Ploeg","year":"2010","journal-title":"N Engl J Med"},{"key":"10.1111\/ane.12460-BIB0017|ane12460-cit-0017","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/j.ymgme.2013.08.005","article-title":"Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies","volume":"110","author":"Preisler","year":"2013","journal-title":"Mol Genet Metab"},{"key":"10.1111\/ane.12460-BIB0018|ane12460-cit-0018","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.ymgme.2013.03.002","article-title":"Screening for later-onset Pompe's disease in patient with paucisymptomatic hyperCKemia","volume":"109","author":"Spada","year":"2013","journal-title":"Mol Genet Metab"},{"key":"10.1111\/ane.12460-BIB0019|ane12460-cit-0019","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1111\/apa.12807","article-title":"Epidemiology of lysosomal storage disorders in Sweden","volume":"103","author":"Hult","year":"2014","journal-title":"Acta Paediatr"},{"key":"10.1111\/ane.12460-BIB0020|ane12460-cit-0020","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1038\/sj.ejhg.5200367","article-title":"Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counseling","volume":"7","author":"Ausems","year":"1999","journal-title":"Eur J Hum Genet"},{"key":"10.1111\/ane.12460-BIB0021|ane12460-cit-0021","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1159\/000016192","article-title":"Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency","volume":"2","author":"Ausems","year":"1999","journal-title":"Community Genet"},{"key":"10.1111\/ane.12460-BIB0022|ane12460-cit-0022","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/(SICI)1096-8628(19980827)79:1<69::AID-AJMG16>3.0.CO;2-K","article-title":"Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease","volume":"79","author":"Martiniuk","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1111\/ane.12460-BIB0023|ane12460-cit-0023","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of lysosomal storage disorders","volume":"281","author":"Meikle","year":"1999","journal-title":"JAMA"},{"key":"10.1111\/ane.12460-BIB0024|ane12460-cit-0024","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1002\/mus.21291","article-title":"A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy","volume":"40","author":"Korpela","year":"2009","journal-title":"Muscle Nerve"}],"container-title":["Acta Neurologica Scandinavica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fane.12460","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1111\/ane.12460\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T02:34:27Z","timestamp":1717986867000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ane.12460"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,20]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,2]]}},"URL":"https:\/\/doi.org\/10.1111\/ane.12460","archive":["Portico"],"relation":{},"ISSN":["0001-6314"],"issn-type":[{"value":"0001-6314","type":"print"}],"subject":[],"published":{"date-parts":[[2015,7,20]]}}}