A new study confirmed the validity of a blood test that can diagnose patients with GLUT1 deficiency syndrome, a treatable neurometabolic disease that causes a wide range of neurologic symptoms in ...

Glut1 deficiency syndrome is a rare and disabling neurological disease still relatively unknown to the medical community. A mutation in the SLC2A1 gene in affected patients causes the glucose ...

Thanks to the collaboration between teams from the AP-HP, the MedTech METAFORA biosystems, the Institute of Molecular Genetics of Montpellier, Cerba Healthcare, and more than 30 investigating centers ...