TY  - JOUR
AU  - Sanchez-Lijarcio, Obdulia
AU  - Yubero, Delia
AU  - Leal, Fatima
AU  - Couce, Maria L
AU  - Gonzalez Gutierrez-Solana, Luis
AU  - Lopez-Laso, Eduardo
AU  - Garcia-Cazorla, Angels
AU  - Pias-Peleteiro, Leticia
AU  - de Azua Brea, Begoña
AU  - Ibañez-Mico, Salvador
AU  - Mateo-Martinez, Gonzalo
AU  - Troncoso-Schifferli, Monica
AU  - Witting-Enriquez, Scarlet
AU  - Ugarte, Magdalena
AU  - Artuch, Rafael
AU  - Perez, Belen
PY  - 2022
DO  - 10.1111/cge.14138
UR  - http://hdl.handle.net/10668/19926
T2  - Clinical genetics
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  - en
PB  - Wiley
KW  - GLUT1
KW  - GLUT1DS
KW  - SLC2A1
KW  - Hypoglycorrhachia
KW  - Carbohydrate metabolism, inborn errors
KW  - Genetic testing
KW  - Glucose transporter type 1
KW  - Humans
KW  - Monosaccharide transport proteins
TI  - The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
TY  - research article
VL  - 102
ER  -