TY - JOUR AU - Peters, T.M.A. AU - Merx, J. AU - Kooijman, P.C. AU - Noga, M. AU - de Boer, S. AU - van Gemert, L.A. AU - Salden, G. AU - Engelke, U.F.H. AU - Lefeber, D.J. AU - van Outersterp, R.E. AU - Berden, G. AU - Boltje, T.J. AU - Artuch, R. AU - Pías Peleteiro, Leticia Diana AU - García-Cazorla, Á. AU - Bari?, I. AU - Thöny, B. AU - Oomens, J. AU - Martens, J. AU - Wevers, R.A. AU - Verbeek, M.M. AU - Coene, K.L.M. AU - Willemsen, M.A.A.P. PY - 2023 SN - 1573-2665 UR - http://hdl.handle.net/20.500.11940/21788 AB - We used next-generation metabolic screening to identify new biomarkers for improved diagnosis and pathophysiological understanding of glucose transporter type 1 deficiency syndrome (GLUT1DS), comparing metabolic cerebrospinal fluid (CSF) profiles from... LA - eng KW - Humans KW - Xylose KW - Glucose KW - Biomarkers KW - Brain TI - Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit DO - 10.1002/jimd.12554 T2 - Journal of Inherited Metabolic Disease M2 - 66 KW - AS Santiago KW - IDIS VL - 46 ER -