Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy. [electronic resource]
Producer: 20200605Description: 1295-1306 p. digitalISSN:- 1530-8561
- Animals
- Chromatography, Liquid
- Dietary Supplements
- Drug Monitoring -- methods
- Dystroglycans
- Female
- Glycosylation
- HEK293 Cells
- Humans
- Male
- Mass Spectrometry
- Mice
- Mice, Transgenic
- Middle Aged
- Muscle, Skeletal -- pathology
- Muscular Dystrophies -- blood
- Mutation
- Nucleoside Diphosphate Sugars -- analysis
- Nucleotidyltransferases -- genetics
- Ribitol -- pharmacology
- Ribose -- pharmacology
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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