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., ...Daha Fazla

NEUROMUSCULAR DISORDERS, cilt.28, ss.262-267, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 28 Konu: 3
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1016/j.nmd.2017.12.008
  • Dergi Adı: NEUROMUSCULAR DISORDERS
  • Sayfa Sayıları: ss.262-267

Özet

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.