دورية أكاديمية
A database for screening and registering late onset Pompe disease in Turkey
| العنوان: | A database for screening and registering late onset Pompe disease in Turkey |
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| المؤلفون: | Munevver Celik Gokyigit, Hakan Ekmekci, Hacer Durmus, Necdet Karll, Emel Koseoglu, Fikret Aysal, Kotan Dündar, Dilcan, Asuman Ali, Pinar Kahraman Koytak, Hatice Karasoy, Aylin Yaman, Ihsan Sukru Sengun, Refah Sayin, Bedile Irem Tiftikcioglu, Aysun Soysal, Kemal Tutkavul, Ayse Oytun Bayrak, Aysin Kisabay, Mehmet Ali Elci, Vildan Yayla, Ibrahim Arda Yilmaz, Sevim Erdem Ozdamar, Cagdas Erdogan, Nebahat Tasdemir, Piraye Serdaroglu Oflazer |
| المساهمون: | Gokyigit, MC, Ekmekci, H, Durmus, H, Karll, N, Koseoglu, E, Aysal, F, Kotan, D, Ali, A, Koytak, PK, Karasoy, H, Yaman, A, Sengun, IS, Sayin, R, Tiftikcioglu, BI, Soysal, A, Tutkavul, K, Bayrak, AO, Kisabay, A, Elci, MA, Yayla, V, Yilmaz, IA, Ozdamar, SE, Erdogan, C, Tasdemir, N, Oflazer, PS, Sakarya Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri Bölümü, Kotan Dündar, Dilcan |
| بيانات النشر: | PERGAMON-ELSEVIER SCIENCE LTD |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Neurosciences & Neurology |
| الوصف: | 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. (C) 2017 Elsevier B.V. All rights reserved. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0960-8966 1873-2364 |
| العلاقة: | NEUROMUSCULAR DISORDERS; Gokyigit, MC; Ekmekci, H; Durmus, H; Karll, N; Koseoglu, E; Aysal, F; Kotan, D; Ali, A; Koytak, PK; Karasoy, H; Yaman, A; Sengun, IS; Sayin, R; Tiftikcioglu, BI; Soysal, A; Tutkavul, K; Bayrak, AO; Kisabay, A; Elci, MA; Yayla, V; Yilmaz, IA; Ozdamar, SE; Erdogan, C; Tasdemir, N; Oflazer, PS; (2018). A database for screening and registering late onset Pompe disease in Turkey. NEUROMUSCULAR DISORDERS, 28, 267-262; https://doi.org/10.1016/j.nmd.2017.12.008Test; https://hdl.handle.net/20.500.12619/65985Test; 28; 262; 267; WOS:000430763800010 |
| DOI: | 10.1016/j.nmd.2017.12.008 |
| الإتاحة: | https://doi.org/20.500.12619/65985Test https://doi.org/10.1016/j.nmd.2017.12.008Test https://hdl.handle.net/20.500.12619/65985Test |
| رقم الانضمام: | edsbas.C9051291 |
| قاعدة البيانات: | BASE |
| تدمد: | 09608966 18732364 |
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| DOI: | 10.1016/j.nmd.2017.12.008 |