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

Gokyigit, Munevver; EKMEKÇİ, HAKAN; Durmus, Hacer; Karll, Necdet; KÖSEOĞLU, Emel; Aysal, Fikret; Kotan, Dilcan; Ali, Asuman; KAHRAMAN KOYTAK, PINAR; Karasoy, Hatice; Yaman, Aylin; ŞENGÜN, İHSAN; Sayin, Refah; Tiftikcioglu, Bedile; Soysal, Aysun; Tutkavul, Kemal; Bayrak, Ayşe; 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

Atıf İçin Kopyala

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)

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.