TY  - GEN 
AU  - Sánchez-Lijarcio, O.
AU  - Yubero, D.
AU  - Leal, F.
AU  - Couce Pico, María Luz
AU  - González Gutiérrez-Solana, L.
AU  - López-Laso, E.
AU  - García-Cazorla, À.
AU  - Pías Peleteiro, Leticia Diana
AU  - de Azua Brea, B.
AU  - Ibáñez-Micó, S.
AU  - Mateo-Martínez, G.
AU  - Troncoso-Schifferli, M.
AU  - Witting-Enriquez, S.
AU  - Ugarte, M.
AU  - Artuch, R.
AU  - Pérez, B.
PY  - 2022
SN  - 1399-0004
UR  - http://hdl.handle.net/20.500.11940/20445
AB  - Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood-brain barrier. This work...
LA  - eng
TI  - The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1
DO  - 10.1111/cge.14138
KW  - AS Santiago
KW  - CHUS
KW  - IDIS
VL  - 102
ER  -