A database for screening and registering late onset Pompe disease in Turkey
dc.contributor.author | Gokyigit M.C. | |
dc.contributor.author | Ekmekci H. | |
dc.contributor.author | Durmus H. | |
dc.contributor.author | Karlı N. | |
dc.contributor.author | Koseoglu E. | |
dc.contributor.author | Aysal F. | |
dc.contributor.author | Kotan D. | |
dc.contributor.author | Ali A. | |
dc.contributor.author | Koytak P.K. | |
dc.contributor.author | Karasoy H. | |
dc.contributor.author | Yaman A. | |
dc.contributor.author | Sengun İ.S. | |
dc.contributor.author | Sayin R. | |
dc.contributor.author | Tiftikcioglu B.I. | |
dc.contributor.author | Soysal A. | |
dc.contributor.author | Tutkavul K. | |
dc.contributor.author | Bayrak A.O. | |
dc.contributor.author | Kısabay A. | |
dc.contributor.author | Elci M.A. | |
dc.contributor.author | Yayla V. | |
dc.contributor.author | Yılmaz İ.A. | |
dc.contributor.author | Ozdamar S.E. | |
dc.contributor.author | Erdogan C. | |
dc.contributor.author | Tasdemir N. | |
dc.contributor.author | Serdaroglu Oflazer P. | |
dc.contributor.author | Deymeer F. | |
dc.contributor.author | Parman Y. | |
dc.contributor.author | Kendirci M. | |
dc.contributor.author | Sayan S. | |
dc.contributor.author | Celebi L.G. | |
dc.contributor.author | Uluç K. | |
dc.contributor.author | Tanrıdağ T. | |
dc.contributor.author | Yuceyar N. | |
dc.contributor.author | Ekmekci O. | |
dc.contributor.author | Colakoglu B.D. | |
dc.contributor.author | Ozturk S. | |
dc.contributor.author | Tireli H. | |
dc.contributor.author | Selcuki D. | |
dc.contributor.author | Neyal A.M. | |
dc.contributor.author | Kayran Y. | |
dc.contributor.author | Aluclu M.U. | |
dc.contributor.author | Koyuncuoglu H.R. | |
dc.contributor.author | Tokucoglu F. | |
dc.contributor.author | Secil Y. | |
dc.contributor.author | Guney F. | |
dc.contributor.author | Gozke E. | |
dc.contributor.author | Balaban H. | |
dc.contributor.author | Akalın M.A. | |
dc.contributor.author | Koc A.F. | |
dc.contributor.author | Mulayim S. | |
dc.contributor.author | Turgut N. | |
dc.contributor.author | Turkish Study Group for Late Onset Pompe Disease | |
dc.date.accessioned | 2019-07-27T12:10:23Z | |
dc.date.accessioned | 2019-07-28T09:33:15Z | |
dc.date.available | 2019-07-27T12:10:23Z | |
dc.date.available | 2019-07-28T09:33:15Z | |
dc.date.issued | 2018 | |
dc.identifier.issn | 0960-8966 | |
dc.identifier.uri | https://dx.doi.org/10.1016/j.nmd.2017.12.008 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12418/5715 | |
dc.description.abstract | The 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. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Elsevier Ltd | en_US |
dc.relation.isversionof | 10.1016/j.nmd.2017.12.008 | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Acid alpha glucosidase | en_US |
dc.subject | Limb girdle muscle weakness | en_US |
dc.subject | LOPD | en_US |
dc.subject | Registry | en_US |
dc.title | A database for screening and registering late onset Pompe disease in Turkey | en_US |
dc.type | article | en_US |
dc.relation.journal | Neuromuscular Disorders | en_US |
dc.contributor.department | Gokyigit, M.C., Dept. of Neurology, Sisli Hamidiye Etfal Ed. Res. Hosp., Istanbul, Turkey, Beykent University, Turkey -- Ekmekci, H., Dept. of Neurology, Selçuk University Hosp., Konya, Turkey -- Durmus, H., Dept. of Neurology Istanbul, İstanbul Medical Faculty, University of Istanbul, Istanbul, Turkey -- Karlı, N., Dept. of Neurology, Uludağ University Hosp., Bursa, Turkey -- Koseoglu, E., Dept. of Neurology, Erciyes University Hosp., Kayseri, Turkey -- Aysal, F., Medipol University Hosp., Istanbul, Turkey -- Kotan, D., Dept. of Neurology, Sakarya University Hosp., Sakarya, Turkey -- Ali, A., Dept. of Neurology, Sevket Yılmaz Ed. Res. Hosp., Bursa, Turkey -- Koytak, P.K., Dept. of Neurology, Marmara University Hospital, Istanbul, Turkey -- Karasoy, H., Dept. of Neurology, Ege University Hosp., İzmir, Turkey -- Yaman, A., Dept. of Neurology, Antalya Ed. Res. Hosp., Antalya, Turkey -- Sengun, İ.S., Dept. of Neurology, Dokuz Eylül University Hosp., İzmir, Turkey -- Sayin, R., Dept. of Neurology, Yüzüncü Yil University Hospital, Van, Turkey -- Tiftikcioglu, B.I., Tepecik Ed. Res. Hosp., Izmir, Turkey -- Soysal, A., Dept. of Neurology, Bakırkoy Psychiatric and Neurological Hosp., Istanbul, Turkey -- Tutkavul, K., Dept. of Neurology, Haydarpaşa Ed. Res. Hosp., İstanbul, Turkey -- Bayrak, A.O., Dept. of Neurology, Ondokuz Mayıs University Hosp., Samsun, Turkey -- Kısabay, A., Dept. of Neurology Manisa, Celal Bayar University Hosp., Manisa, Turkey -- Elci, M.A., Dept. of Neurology Gaziantep, Gaziantep University Hosp., Gaziantep, Turkey -- Yayla, V., Dept. of Neurology, Bakırkoy Sadi Konuk Ed. Res. Hosp., Istanbul, Turkey -- Yılmaz, İ.A., Dept. of Neurology, Mersin University Hosp., Mersin, Turkey -- Ozdamar, S.E., Dept. of Neurology, Hacettepe University Hosp., Ankara, Turkey -- Erdogan, C., Dept. of Neurology, Pamukkale University Hosp., Denizli, Turkey -- Tasdemir, N., Dept. of Neurology, Dicle University Hosp., Diyarbakır, Turkey -- Serdaroglu Oflazer, P., Dept. of Neurology Istanbul, İstanbul Medical Faculty, University of Istanbul, Istanbul, Turkey -- Deymeer, F., Istanbul Medical Faculty, Dept. of Neurology, University of Istanbul, Istanbul, Turkey -- Parman, Y., Istanbul Medical Faculty, Dept. of Neurology, University of Istanbul, Istanbul, Turkey -- Kendirci, M., Dept. of Neurology, Erciyes University Hosp., Kayseri, Turkey -- Sayan, S., Dept. of Neurology, Sakarya University Hosp., Sakarya, Turkey -- Celebi, L.G., Dept. of Neurology, Sisli Hamidiye Etfal Ed. Res. Hosp., Istanbul, Turkey -- Uluç, K., Dept. of Neurology, Marmara University Hospital, Istanbul, Turkey -- Tanrıdağ, T., Dept. of Neurology, Marmara University Hospital, Istanbul, Turkey -- Yuceyar, N., Dept. of Neurology, Ege University Hosp., Izmir, Turkey -- Ekmekci, O., Dept. of Neurology, Ege University Hosp., Izmir, Turkey -- Colakoglu, B.D., Dept. of Neurology, Dokuz Eylul University Hosp., Izmir, Turkey -- Ozturk, S., Dept. of Neurology, Selcuk University Hospital, Konya, Turkey -- Tireli, H., Dept. of Neurology, Haydarpasa Ed. Res. Hosp., Istanbul, Turkey -- Selcuki, D., Dept. of Neurology, Celal Bayar University Hosp., Manisa, Turkey -- Neyal, A.M., Dept. of Neurology, Gaziantep University Hosp., Gaziantep, Turkey -- Kayran, Y., Dept. of Neurology, Bakirkoy, Sadi Konuk Ed. Res. Hosp., Istanbul, Turkey -- Aluclu, M.U., Dept. of Neurology, Dicle University Hosp., Diyarbakir, Turkey -- Koyuncuoglu, H.R., Dept. of Neurology, Suleyman Demirel University Hosp., Isparta, Turkey -- Tokucoglu, F., Dept. of Neurology, Tepecik Ed. Res. Hosp., Izmir, Turkey -- Secil, Y., Dept of Neurology, Atatürk Ed. Res. Hosp., Izmir, Turkey -- Guney, F., Meram Medical Faculty, Dept. of Neurology, Necmettin Erbakan University, Konya, Turkey -- Gozke, E., Dept. of Neurology, Fatih Sultan Mehmet Ed. Res. Hosp., Istanbul, Turkey -- Balaban, H., Dept. of Neurology, Cumhuriyet University Hosp., Sivas, Turkey -- Akalın, M.A., Cerrahpasa Medical Faculty, Dept. of Neurology, Istanbul University, Istanbul, Turkey -- Koc, A.F., Dept. of Neurology, Cukurova University Hosp., Adana, Turkey -- Mulayim, S., Dept. of Neurology, Kocaeli University Hosp., Izmit, Turkey -- Turgut, N., Dept. of Neurology, Namık Kemal University Hosp., Tekirdag, Turkey -- Turkish Study Group for Late Onset Pompe Disease | en_US |
dc.identifier.volume | 28 | en_US |
dc.identifier.issue | 3 | en_US |
dc.identifier.endpage | 267 | en_US |
dc.identifier.startpage | 262 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
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