Designing an Untargeted Metabolomics Assay to Detect Biomarkers for Inborn Errors of Metabolism in the Clinical Laboratory
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Presenting Author - Rachel Wurth, MS; Co-Author - Coleman Turgeon, MS; Co-Author - Zinandré Stander, PhD; Co-Author - Dimitar K. Gavrilov, MD, PhD; Co-Author - Patricia L. Hall, PhD; Co-Author - Dietrich Matern, MD, PhD, FACMG; Co-Author - Matthew Schultz, PhD; Co-Author - Silvia Tortorelli, MD,PhD; Co-Author - Devin Oglesbee, PhD;
Meta Tag
Biochemical genetics
Differentiation
Lysosomal Diseases
Metabolic Disorder
Co-Author Coleman Turgeon, MS
Co-Author Zinandré Stander, PhD
Co-Author Dimitar K. Gavrilov, MD, PhD
Co-Author Patricia L. Hall, PhD
Co-Author Dietrich Matern, MD, PhD, FACMG
Co-Author Matthew Schultz, PhD
Co-Author Silvia Tortorelli, MD,PhD
Co-Author Devin Oglesbee, PhD
Presenting Author Rachel Wurth, MS
Keywords
untargeted metabolomics assay
biomarkers
inborn errors of metabolism
clinical laboratory
metabolites
diagnosis
hydrophilic interaction liquid chromatography
reverse phase column
plasma
internal standard retention time stability

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