A database for screening and registering late onset Pompe disease in Turkey

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dc.authorscopusid32667623900
dc.authorscopusid57212059303
dc.authorscopusid26767720100
dc.authorscopusid6506587942
dc.authorscopusid6602483145
dc.authorscopusid7801410540
dc.authorscopusid14522585500
dc.contributor.authorGokyigit, M.C.
dc.contributor.authorEkmekci, Hakan
dc.contributor.authorDurmuş, H.
dc.contributor.authorKarlı, N.
dc.contributor.authorKöseoğlu, E.
dc.contributor.authorAysal, F.
dc.contributor.authorTurgut, Nilda
dc.date.accessioned2022-05-11T14:40:16Z
dc.date.available2022-05-11T14:40:16Z
dc.date.issued2018
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Nöroloji Ana Bilim Dalı
dc.description.abstractThe aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe. © 2017 Elsevier B.V.
dc.identifier.doi10.1016/j.nmd.2017.12.008
dc.identifier.endpage267
dc.identifier.issn0960-8966
dc.identifier.issue3en_US
dc.identifier.pmid29395671
dc.identifier.scopus2-s2.0-85041609610
dc.identifier.scopusqualityQ1
dc.identifier.startpage262
dc.identifier.urihttps://doi.org/10.1016/j.nmd.2017.12.008
dc.identifier.urihttps://hdl.handle.net/20.500.11776/8923
dc.identifier.volume28
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorTurgut, Nilda
dc.language.isoen
dc.publisherElsevier Ltd
dc.relation.ispartofNeuromuscular Disorders
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectAcid alpha glucosidase
dc.subjectLimb girdle muscle weakness
dc.subjectLOPD
dc.subjectRegistry
dc.subjectcreatine kinase
dc.subjectglucan 1,4 alpha glucosidase
dc.subjectcreatine kinase
dc.subjectadult
dc.subjectaged
dc.subjectArticle
dc.subjectcontrolled study
dc.subjectcreatine kinase blood level
dc.subjectdata base
dc.subjectdisease registry
dc.subjectelectrodiagnosis
dc.subjectenzyme assay
dc.subjectenzyme blood level
dc.subjectfemale
dc.subjectgenetic screening
dc.subjectglycogen storage disease type 2
dc.subjecthistopathology
dc.subjecthuman
dc.subjecthuman tissue
dc.subjectlate onset disorder
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectmulticenter study
dc.subjectmuscle weakness
dc.subjectmutational analysis
dc.subjectmyopathy
dc.subjectpriority journal
dc.subjectrespiratory distress
dc.subjectscreening
dc.subjectTurkey (republic)
dc.subjectblood
dc.subjectfactual database
dc.subjectglycogen storage disease type 2
dc.subjectmass screening
dc.subjectonset age
dc.subjectprevalence
dc.subjectregister
dc.subjectturkey (bird)
dc.subjectAge of Onset
dc.subjectCreatine Kinase
dc.subjectDatabases, Factual
dc.subjectGlycogen Storage Disease Type II
dc.subjectHumans
dc.subjectMass Screening
dc.subjectPrevalence
dc.subjectRegistries
dc.subjectTurkey
dc.titleA database for screening and registering late onset Pompe disease in Turkey
dc.typeArticle

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