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