Studies involving disease:Genetic Disease

Study ID Study Title Species Institute
ST002557Untargeted Metabolomics Identifies Biomarkers for MCADD Neonates in Dried Blood SpotsHumanKing Faisal Specialist Hospital and Research Centre (KFSHRC)
ST002564Metabolomic profiling of PMM2-CDG after siRNA mediated KD of AKR1b1 and neuraminidase treatmentHumanMayo Clinic
ST002565Metabolomic profiling of PMM2-CDG after siRNA mediated KD of AKR1b1 - 13C6 glucose and fructose studyHumanMayo Clinic
ST002566Metabolomic profiling of PMM2-CDG patient fibroblastsHumanMayo Clinic

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