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


Gokyigit M. C., EKMEKÇİ H., Durmus H., Karll N., KÖSEOĞLU E., Aysal F., ...Daha Fazla

NEUROMUSCULAR DISORDERS, cilt.28, sa.3, ss.262-267, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 3
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1016/j.nmd.2017.12.008
  • Dergi Adı: NEUROMUSCULAR DISORDERS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.262-267
  • Anahtar Kelimeler: LOPD, Registry, Limb girdle muscle weakness, Acid alpha glucosidase, GIRDLE MUSCULAR-DYSTROPHY, HYPERCKEMIA, PREVALENCE, MYOPATHIES, COHORT
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

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.