Title: | A database for screening and registering late onset Pompe disease in Turkey |
Journal : | Neuromuscular disorders : NMD, 28, 3 |
Authors: | Gokyigit MC, Author ; Ekmekci H ; Durmus H ; Karl N ; Koseoglu E ; Aysal F ; Kotan D ; Ali A ; Koytak PK ; Karasoy H ; Yaman A ; Sengun S ; Sayin R ; Tiftikcioglu BI ; Soysal A ; Tutkavul K ; Bayrak AO ; Kisabay A ; Elci MA ; Yayla V ; Ylmaz iA ; Ozdamar SE ; Erdogan C ; Tasdemir N ; Serdaroglu Oflazer P |
Material Type: | Article |
Publication Date: | 2018 |
Size: | p 262 |
Languages: | English |
Keywords : | acid alpha-glucosidase ; blood serum enzyme assays ; GAA gene ; genetic analysis ; genetic diagnosis ; genetic mutations ; late-onset Pompe disease ; patient registers ; Turkey |
Keywords: | Acid alpha glucosidase;LOPD;Limb girdle muscle weakness;Registry; |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2017.12.008 / Pubmed : 29395671 |
N° Profil MNM : | 2018021 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29395671 |