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Expert Insight: Urinary NMR diagnostics for inborn errors of metabolism using rule-based interpretation (for research use only)
Watch this on-demand webinar to learn about the potential of computer-assisted interpretation and linking disease markers identified by NMR to the metagene database
14 Jan 2021
Prof. Dr. med. Friedrich Trefz and Dr. Georg Frauendienst-Egger
Inborn errors of metabolism are rare diseases that often provide a typical pattern of elevated metabolites in biological fluids like urine, blood (plasma or serum), or cerebrospinal fluid. More than 1,000 different diseases are known. Because of the different chemical classes of those metabolites, the most used methods are gas chromatography-mass spectrometry (GC/MS), liquid chromatography-mass spectrometry (LC/MS), and other chromatographic methods. However, by using NMR analysis, which is a highly reproducible and quantitative method, it is possible to quantify simultaneously metabolites from a wide range of differ