D

DE GIORGIS V.

Last name: DE GIORGIS V.

2017 (v1)

Publication

Metadata-only

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

Cappuccio G. Pinelli M. Alagia M.

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 of metabolism due to reduced function of glucose transporter type 1. Clinical presentation of...

Uploaded on: March 31, 2023