Studies involving disease:Genetic disease
| Study ID | Study Title | Species | Institute |
|---|---|---|---|
| ST002179 | Impact of nitisinone on the cerebrospinal fluid metabolome of a murine model of alkaptonuria | Mouse | University of Liverpool Institute of Life Course & Medical Sciences |
| ST002557 | Untargeted Metabolomics Identifies Biomarkers for MCADD Neonates in Dried Blood Spots | Human | King Faisal Specialist Hospital and Research Centre (KFSHRC) |
| ST002564 | Metabolomic profiling of PMM2-CDG after siRNA mediated KD of AKR1b1 and neuraminidase treatment | Human | Mayo Clinic |
| ST002565 | Metabolomic profiling of PMM2-CDG after siRNA mediated KD of AKR1b1 - 13C6 glucose and fructose study | Human | Mayo Clinic |
| ST002566 | Metabolomic profiling of PMM2-CDG patient fibroblasts | Human | Mayo Clinic |
| ST002750 | A Comprehensive Metabolomics Profile for Newborns with Maple syrup urine disease | Human | King Saud University |
| ST003121 | Metabolomic profiling of ALG13-CDG brain organoids | Human | Mayo Clinic |
| ST003171 | Untargeted Metabolomics for Exploring Metabolomic Profile of Maple Syrup Urine Disease Sick Patients | Human | King Saud University |
| ST003352 | Untargeted lipidomics profiling of LPL-overexpression and LPL-knockdown microglia | Human | St Jude Children's Research Hospital |
