Articles with "biochemical phenotyping" as a keyword



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Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet

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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… read more here.

Keywords: glut1 deficiency; treatment; potential biomarkers; glut1 ... See more keywords