Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy

Walinka van Tol, Monique van Scherpenzeel, Mohammad Alsady, Moniek Riemersma, Esther Hermans, Else Kragt, Giorgio Tasca, Erik-Jan Kamsteeg, Maartje Pennings, Ellen van Beusekom, Jeroen R. Vermeulen, Hans van Bokhoven, Nicol C. Voermans, Michel A. Willemsen, Angel Ashikov, Dirk J. Lefeber*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1295-1306
Number of pages12
JournalClinical Chemistry
Volume65
Issue number10
DOIs
Publication statusPublished - Oct 2019

Keywords

  • ALPHA-DYSTROGLYCAN
  • POSTTRANSLATIONAL MODIFICATION
  • DEFECTIVE GLYCOSYLATION
  • GLYCOPROTEIN COMPLEX
  • D-RIBOSE
  • ISPD
  • MUTATIONS
  • FKRP
  • METABOLISM
  • THERAPY

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