@article{c6bd5d9ec81c42acb47f10635bf14a29,
title = "Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy",
keywords = "ALPHA-DYSTROGLYCAN, POSTTRANSLATIONAL MODIFICATION, DEFECTIVE GLYCOSYLATION, GLYCOPROTEIN COMPLEX, D-RIBOSE, ISPD, MUTATIONS, FKRP, METABOLISM, THERAPY",
author = "{van Tol}, Walinka and {van Scherpenzeel}, Monique and Mohammad Alsady and Moniek Riemersma and Esther Hermans and Else Kragt and Giorgio Tasca and Erik-Jan Kamsteeg and Maartje Pennings and {van Beusekom}, Ellen and Vermeulen, {Jeroen R.} and {van Bokhoven}, Hans and Voermans, {Nicol C.} and Willemsen, {Michel A.} and Angel Ashikov and Lefeber, {Dirk J.}",
year = "2019",
month = oct,
doi = "10.1373/clinchem.2019.305391",
language = "English",
volume = "65",
pages = "1295--1306",
journal = "Clinical Chemistry",
issn = "0009-9147",
publisher = "American Association for Clinical Chemistry",
number = "10",
}