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

Gokyigit, Munevver; Ekmekci, Hakan; Durmus, Hacer; Karll, Necdet; KÖSEOĞLU, Emel; Aysal, Fikret; Kotan, Dilcan; Ali, Asuman; KAHRAMAN KOYTAK, PINAR; Karasoy, Hatice; Yaman, Aylin; Sengun, Ihsan; Sayin, Refah; Tiftikcioglu, Bedile; Soysal, Aysun; Tutkavul, Kemal; Bayrak, Ayse; Kisabay, Aysin; Elci, Mehmet; Yayla, Vildan; YILMAZ, İBRAHİM; ERDEM ÖZDAMAR, SEVİM; ERDOĞAN, ÇAĞDAŞ; Tasdemir, Nebahat; Oflazer, Piraye

doi:10.1016/j.nmd.2017.12.008

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

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Gokyigit M. C., Ekmekci H., Durmus H., Karll N., KÖSEOĞLU E., Aysal F., ...More

NEUROMUSCULAR DISORDERS, vol.28, no.3, pp.262-267, 2018 (SCI-Expanded)

Publication Type: Article / Article
Volume: 28 Issue: 3
Publication Date: 2018
Doi Number: 10.1016/j.nmd.2017.12.008
Journal Name: NEUROMUSCULAR DISORDERS
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.262-267
Hacettepe University Affiliated: Yes

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.