Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study - Almontashiri, Naif A. M.; Zha, Li; Young, Kim; Law, Terence; Kellogg, Mark D.; Bodamer, Olaf A.; Peake, Roy W. A. (Scientific reports, 2020)
Keywords: 631/45; 631/45/320; 692/53; 692/53/2421; Adolescent; Biomarkers - metabolism; Child; Child, Preschool; Cohort Studies; Comparative studies; Diagnosis; Female; Genetic Diseases, Inborn - genetics; Genetic disorders; Genetic Testing; Humanities and Social Sciences; Humans; Inborn errors of metabolism; Male; Metabolism, Inborn Errors - genetics; Metabolites; Metabolomics; Metabolomics - methods; multidisciplinary; Phenotype; Phenotypes; Science; Science (multidisciplinary); Syndrome