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

GOKYIGIT, Munevver; Ekmekci, Hakan; Durmus, HACER; Karll, Necdet; Koseoglu, Emel; AYSAL, Fikret; Kotan, Dilcan; ALI, Asuman; 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, Ibrahim; Ozdamar, Sevim; Erdogan, Cagdas; Tasdemir, Nebahat; Oflazer, Piraye

doi:10.1016/j.nmd.2017.12.008

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

GOKYIGIT M. C., Ekmekci H., Durmus H., Karll N., Koseoglu E., AYSAL F., ...More

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

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
Istanbul 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.