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

• Published in: Neuromuscular disorders : NMD Vol. 28; no. 3; pp. 262 - 267
• Main Authors: Gokyigit, Munevver Celik, Ekmekci, Hakan, Durmus, Hacer, Karlı, Necdet, Koseoglu, Emel, Aysal, Fikret, Kotan, Dilcan, Ali, Asuman, Koytak, Pınar Kahraman, Karasoy, Hatice, Yaman, Aylin, Sengun, İhsan Sukru, Sayin, Refah, Tiftikcioglu, Bedile Irem, Soysal, Aysun, Tutkavul, Kemal, Bayrak, Ayse Oytun, Kısabay, Aysin, Elci, Mehmet Ali, Yayla, Vildan, Yılmaz, İbrahim Arda, Ozdamar, Sevim Erdem, Erdogan, Cagdas, Tasdemir, Nebahat, Serdaroglu Oflazer, Piraye, Deymeer, Feza, Parman, Yesim, Kendirci, Murat, Sayan, Saadet, Celebi, Lale Gundogdu, Uluç, Kayıhan, Tanrıdağ, Tülin, Yuceyar, Nur, Ekmekci, Ozgul, Colakoglu, Beril Dönmez, Ozturk, Serefnur, Tireli, Hulya, Selcuki, Deniz, Neyal, Ayse Munife, Kayran, Yusuf, Aluclu, Mehmet Ufuk, Koyuncuoglu, Hasan Rifat, Tokucoglu, Figen, Secil, Yaprak, Guney, Figen, Gozke, Eren, Balaban, Hatice, Akalın, Mehmet Ali, Koc, Ayse Filiz, Mulayim, Serap, Turgut, Nilda
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.03.2018
• Subjects: Acid alpha glucosidase; Limb girdle muscle weakness; LOPD; Registry; Limb girdle muscle weakness; Registry; LOPD; Acid alpha glucosidase

•A national registry for screening LOPD can also serve to give a grounding in the examination of muscle diseases.•AAG levels by dried blood spot (DBS) even from two different laboratories in the same patient may not prove LOPD.•LOPD seemed to be rarer in Turkey than in Europe. The aim of this study...