A database for screening and registering late onset Pompe disease in Turkey
Tarih
2018Yazar
Gokyigit, M.C. and Ekmekci, H. and Durmus, H. and Karlı, N. and Koseoglu, E. and Aysal, F. and Kotan, D. and Ali, A. and Koytak, P.K. and Karasoy, H. and Yaman, A. and Sengun, İ.S. and Sayin, R. and Tiftikcioglu, B.I. and Soysal, A. and Tutkavul, K. and Bayrak, A.O. and Kısabay, A. and Elci, M.A. and Yayla, V. and Yılmaz, İ.A. and Ozdamar, S.E. and Erdogan, C. and Tasdemir, N. and Serdaroglu Oflazer, P. and Deymeer, F. and Parman, Y. and Kendirci, M. and Sayan, S. and Celebi, L.G. and Uluç, K. and Tanrıdağ, T. and Yuceyar, N. and Ekmekci, O. and Colakoglu, B.D. and Ozturk, S. and Tireli, H. and Selcuki, D. and Neyal, A.M. and Kayran, Y. and Aluclu, M.U. and Koyuncuoglu, H.R. and Tokucoglu, F. and Secil, Y. and Guney, F. and Gozke, E. and Balaban, H. and Akalın, M.A. and Koc, A.F. and Mulayim, S. and Turgut, N. and Turkish Study Group for Late Onset Pompe Disease
Üst veri
Tüm öğe kaydını gösterÖzet
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.
Bağlantı
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85041609610&doi=10.1016%2fj.nmd.2017.12.008&partnerID=40&md5=d5f7bee681947352e2d23a8a83e9834ehttp://hdl.handle.net/20.500.12481/11592
Koleksiyonlar
- Scopus [2994]