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


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) identifier identifier identifier

  • 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.