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Published in 2017 at "PLoS ONE"
DOI: 10.1371/journal.pone.0184022
Abstract: Global metabolomic profiling offers novel opportunities for the discovery of biomarkers and for the elucidation of pathogenic mechanisms that might lead to the development of novel therapies. GLUT1 deficiency syndrome (GLUT1-DS) is an inborn error…
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Keywords:
glut1 deficiency;
treatment;
potential biomarkers;
glut1 ... See more keywords