van Tol, Walinka <br/><br/>
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.  [electronic resource] 

 -  Clinical chemistry  10 2019 
 - 1295-1306 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1530-8561 
<br/><br/><label>Standard No.: </label>10.1373/clinchem.2019.305391  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Chromatography, Liquid<br/>Dietary Supplements<br/>Drug Monitoring--methods<br/>Dystroglycans<br/>Female<br/>Glycosylation<br/>HEK293 Cells<br/>Humans<br/>Male<br/>Mass Spectrometry<br/>Mice<br/>Mice, Transgenic<br/>Middle Aged<br/>Muscle, Skeletal--pathology<br/>Muscular Dystrophies--blood<br/>Mutation<br/>Nucleoside Diphosphate Sugars--analysis<br/>Nucleotidyltransferases--genetics<br/>Ribitol--pharmacology<br/>Ribose--pharmacology