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 |
| ST003555 | Mitochondrial dysfunction is a driver of cardiac complications in PGM1-CDG with implications for therapy | Human | Mayo Clinic |
| ST003858 | Metabolomics study on Xenopus tropicalis tadpoles overexpressing human IMPDH2 pathogenic variant | Frog | University of Washington |
| ST004390 | Polar metabolites profiling between Human Fragile X Syndrome (FXS) and typically developing (TD) human cortex. | Human | UMass Chan Medical School |
| ST004391 | Polar metabolites profiling between Human Fragile X Syndrome (FXS) and typically developing (TD) human cerebellum. | Human | UMass Chan Medical School |
| ST004392 | Polar metabolic differences in cortex and hippocampus of wild-type (WT) and Fmr1 KO mice. | Mouse | UMass Chan Medical School |
| ST004393 | Polar metabolites profiling in Human Fragile X Syndrome (FXS) and typically developing (TD) human plasma. | Human | UMass Chan Medical School |
| ST004394 | Intracellular polar Metabolomics on Lymphoblastoid cell lines (LCL) between individuals with Fragile X Syndrome (FXS) and from typically developing (TD) male controls. | Human | UMass Chan Medical School |
| ST004395 | Extracellular polar Metabolomics on Lymphoblastoid cell lines (LCL) between individuals with Fragile X Syndrome (FXS) and from typically developing (TD) male controls. | Human | UMass Chan Medical School |
| ST004396 | More intracellular polar metabolomics on Lymphoblastoid cell lines (LCL) between individuals with Fragile X Syndrome (FXS) and from typically developing (TD) male controls. (Repeat on cell from more patients) | Human | UMass Chan Medical School |
| ST004397 | [¹³C₅,¹⁵N₂]-glutamine stable isotope tracing in TD, FXS2 (partial FMRP), and FXS1 (no FMRP) from Lymphoblastoid cell lines (LCL) | Human | UMass Chan Medical School |
| ST004398 | Polar metabolomics on neural progenitor cells (NPCs) generated using the dual SMAD inhibition method from Fragile X Syndrome (FXS) and typically developing (TD) induced pluripotent stem cells (iPSCs). | Human | UMass Chan Medical School |
| ST004399 | Intracellular polar metabolomics on neural progenitor cells (NPCs) generated using dual SMAD inhibition method from Fragile X Syndrome (FXS) and CRISPR edited isogenic rescue induced pluripotent stem cells (iPSCs). | Human | UMass Chan Medical School |
| ST004400 | Extracellular polar metabolomics on media neural progenitor cells (NPCs) generated using dual SMAD inhibition method from FXS and CRISPR edited isogenic rescue induced pluripotent stem cells (iPSCs) | Human | UMass Chan Medical School |
| ST004401 | Polar metabolomics on extracellular media of induced pluripotent stem cells (iPSC) derived forebrain excitatory neurons generated from a FXS and CRISPR edited isogenic control. | Human | UMass Chan Medical School |
| ST004402 | Polar metabolomics on intracellular media of induced pluripotent stem cells (iPSC) derived forebrain excitatory neurons generated from a FXS and CRISPR edited isogenic control. | Human | UMass Chan Medical School |
| ST004403 | Polar metabolomics on cell pellets and extracellular media of 4-week iPSC derived forebrain excitatory neurons generated from a FXS and CRISPR edited isogenic control. | Human | UMass Chan Medical School |
| ST004404 | L-Glutamine-13C5,15N2 stable isotope tracing on cell and media of 4-week iPSC derived forebrain excitatory neurons generated from a FXS and CRISPR edited isogenic control. | Human | UMass Chan Medical School |
