{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:20:07Z","timestamp":1760833207540,"version":"build-2065373602"},"reference-count":20,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T00:00:00Z","timestamp":1519862400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T00:00:00Z","timestamp":1519862400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2018,3]]},"DOI":"10.1016\/j.nmd.2017.12.008","type":"journal-article","created":{"date-parts":[[2017,12,20]],"date-time":"2017-12-20T14:14:50Z","timestamp":1513779290000},"page":"262-267","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["A database for screening and registering late onset Pompe disease in Turkey"],"prefix":"10.1016","volume":"28","author":[{"given":"Munevver Celik","family":"Gokyigit","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hakan","family":"Ekmekci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hacer","family":"Durmus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Necdet","family":"Karl\u0131","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emel","family":"Koseoglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fikret","family":"Aysal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dilcan","family":"Kotan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asuman","family":"Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u0131nar Kahraman","family":"Koytak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hatice","family":"Karasoy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aylin","family":"Yaman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0130hsan Sukru","family":"Sengun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Refah","family":"Sayin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bedile Irem","family":"Tiftikcioglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aysun","family":"Soysal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kemal","family":"Tutkavul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayse Oytun","family":"Bayrak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aysin","family":"K\u0131sabay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet Ali","family":"Elci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vildan","family":"Yayla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0130brahim Arda","family":"Y\u0131lmaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sevim Erdem","family":"Ozdamar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cagdas","family":"Erdogan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nebahat","family":"Tasdemir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piraye","family":"Serdaroglu Oflazer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feza","family":"Deymeer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yesim","family":"Parman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murat","family":"Kendirci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saadet","family":"Sayan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lale Gundogdu","family":"Celebi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kay\u0131han","family":"Ulu\u00e7","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T\u00fclin","family":"Tanr\u0131da\u011f","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nur","family":"Yuceyar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ozgul","family":"Ekmekci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beril D\u00f6nmez","family":"Colakoglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serefnur","family":"Ozturk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hulya","family":"Tireli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deniz","family":"Selcuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayse Munife","family":"Neyal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusuf","family":"Kayran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet Ufuk","family":"Aluclu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hasan Rifat","family":"Koyuncuoglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Figen","family":"Tokucoglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaprak","family":"Secil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Figen","family":"Guney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eren","family":"Gozke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hatice","family":"Balaban","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet Ali","family":"Akal\u0131n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayse Filiz","family":"Koc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serap","family":"Mulayim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nilda","family":"Turgut","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2017.12.008_bib0010","first-page":"3389","article-title":"Glycogen storage disease type I: acid \u03b1-glucosidase (acid maltase) deficiency","volume":"vol. III","author":"Hirschhorn","year":"2001"},{"key":"10.1016\/j.nmd.2017.12.008_bib0015","first-page":"1533","article-title":"Acid maltase deficiency","volume":"vol. II","author":"Engel","year":"1994"},{"key":"10.1016\/j.nmd.2017.12.008_bib0020","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1186\/1546-0096-6-S1-P159","article-title":"The Pompe Registry: tracking Pompe disease symptoms in a broad patient population","volume":"6","author":"Byrne","year":"2008","journal-title":"Pediatr Rheumatol Online J"},{"key":"10.1016\/j.nmd.2017.12.008_bib0025","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1007\/s10545-014-9751-2","article-title":"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","volume":"38","author":"Van der Meijden","year":"2015","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.nmd.2017.12.008_bib0030","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgme.2011.02.004","article-title":"Pompe disease: design, methodology, and early findings from the Pompe Registry","volume":"103","author":"Byrne","year":"2011","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nmd.2017.12.008_bib0035","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/j.neurol.2013.07.002","article-title":"The French Pompe Registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease","volume":"169","author":"Lafor\u00eata","year":"2013","journal-title":"Rev Neurol"},{"key":"10.1016\/j.nmd.2017.12.008_bib0040","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1111\/j.1469-1809.1994.tb00729.x","article-title":"Consanguineous marriage in Turkey and its impact on fertility and mortality","volume":"58","author":"Tuncb\u0131lek","year":"1994","journal-title":"Ann Hum Genet"},{"key":"10.1016\/j.nmd.2017.12.008_bib0045","doi-asserted-by":"crossref","first-page":"S21","DOI":"10.1016\/j.clinthera.2011.05.062","article-title":"Current French Pompe Prevalence Study (French PoPS)","volume":"33","author":"Sacconi","year":"2011","journal-title":"Clin Ther"},{"key":"10.1016\/j.nmd.2017.12.008_bib0050","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1016\/j.nmd.2011.06.954","article-title":"Pompe disease in persons with unclassified limb-girdle muscular dystrophy","volume":"21","author":"Husu","year":"2011","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2017.12.008_bib0055","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 patients with paucisymptomatic hyperCKemia","volume":"109","author":"Spada","year":"2013","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nmd.2017.12.008_bib0060","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":"113","author":"Preisler","year":"2013","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nmd.2017.12.008_bib0065","first-page":"893","article-title":"Epidemiology and screening of Pompe disease in Sweden. 19th International Congress of the World Muscle Society","volume":"24","author":"Balcin","year":"2014","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2017.12.008_bib0070","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1016\/j.nmd.2014.06.438","article-title":"Screening for late-onset Pompe disease in Finland","volume":"24","author":"Palmio","year":"2014","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2017.12.008_bib0075","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1016\/j.nmd.2015.04.008","article-title":"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","volume":"25","author":"Guti\u00e9rrez-Rivas","year":"2015","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2017.12.008_bib0080","doi-asserted-by":"crossref","first-page":"e336","DOI":"10.1016\/j.jns.2015.08.1196","article-title":"Pompe disease in a Brazilian city: the prevalence of a rare disease in a symptomatic population sample","volume":"357","author":"Grippea","year":"2015","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.nmd.2017.12.008_bib0085","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1016\/j.ymgme.2015.02.004","article-title":"Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and\/or hyperCKemia","volume":"114","author":"P\u00e9rez-L\u00f3pez","year":"2015","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nmd.2017.12.008_bib0090","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1111\/ane.12460","article-title":"Search for Pompe disease among patients with undetermined myopathies","volume":"133","author":"Lindberg","year":"2016","journal-title":"Acta Neurol Scand"},{"issue":"1","key":"10.1016\/j.nmd.2017.12.008_bib0095","first-page":"5","article-title":"LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population","volume":"87","author":"Musumeci","year":"2015","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.nmd.2017.12.008_bib0100","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1212\/WNL.0000000000002758","article-title":"Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb girdle muscular weakness","volume":"87","author":"Lukacs","year":"2016","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2017.12.008_bib0105","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1002\/ajpa.1064","article-title":"DNA diversity and population admixture in Anatolia","volume":"115","author":"Di Benedetto","year":"2001","journal-title":"Am J Phys Anthropol"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896617313147?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896617313147?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:06:42Z","timestamp":1760774802000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896617313147"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["S0960896617313147"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2017.12.008","relation":{},"ISSN":["0960-8966"],"issn-type":[{"type":"print","value":"0960-8966"}],"subject":[],"published":{"date-parts":[[2018,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A database for screening and registering late onset Pompe disease in Turkey","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2017.12.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}