Articles with "metabolomics slc13a5" as a keyword



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Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver–Brain Axis for Lipid Homeostasis

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Published in 2022 at "Metabolites"

DOI: 10.3390/metabo12040351

Abstract: Though biallelic variants in SLC13A5 are known to cause severe encephalopathy, the mechanism of this disease is poorly understood. SLC13A5 protein deficiency reduces citrate transport into the cell. Downstream abnormalities in fatty acid synthesis and… read more here.

Keywords: untargeted metabolomics; metabolomics slc13a5; slc13a5 deficiency; deficiency ... See more keywords