Browsing by Author "Troncoso Schifferli, Lucy"

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    • The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes ... 
      Sánchez Lijarcio, Obdulia; Yubero, Delia; Leal, Fátima; Couce, María L.; González Gutiérrez-Solana, Luis; López Laso, Eduardo; García Cazorla, Ángels; Pías Peleteiro, Leticia; Azua Brea, Begoña de; Ibáñez Mico, Salvador; Mateo-Martínez, Gonzalo; Troncoso Schifferli, Lucy; Witting Enríquez, Scarlet; Ugarte, Magdalena; Artuch, Rafael; Pérez, Belén (Wiley, 2022)
      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 ...