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Novel CSF biomarkers of GLUT1 deficiency syndrome: implications beyond the brain’s energy deficit

Autor: Tessa M.A. Peters, Jona Merx, Pieter C. Kooijman, Marek Noga, Siebolt de Boer, Loes A. van Gemert, Guido Salden, Udo F.H. Engelke, Dirk J. Lefeber, Rianne E. van Outersterp, Giel Berden, Thomas J. Boltje, Rafael Artuch, Leticia Pías, Ángeles García-Cazorla, Ivo Barić, Beat Thöny, Jos Oomens, Jonathan Martens, Ron A. Wevers, Marcel M. Verbeek, Karlien L.M. Coene, Michèl A.A.P. Willemsen

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 CSF profiles from 11 patients to those

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8a9ed5b015117b27503889b8226c8707
https://doi.org/10.1101/2022.04.15.22273511

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Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy

Autor: Ron A. Wevers, Levinus A. Bok, Erik de Vrieze, Thomas J. Boltje, Laura A. Tseng, Saadet Mercimek-Andrews, Tessa M.A. Peters, Keith Hyland, Marleen C. D. G. Huigen, Giel Berden, Clara D.M. van Karnebeek, Hilal H. Al-Shekaili, Floris P.J.T. Rutjes, Arno van Rooij, Sidney M. Gospe, Fred A. M. G. van Geenen, Sanne Broekman, Jasmin Mecinović, Jona Merx, Eduard A. Struys, Michèl A.A.P. Willemsen, Jos Oomens, Erwin van Wijk, Leo A.J. Kluijtmans, Laura A. Jansen, Udo Engelke, Purva Kulkarni, Jonathan Martens, Blair R. Leavitt, Rianne E. van Outersterp, Karlien L.M. Coene

Publikováno v: Journal of Clinical Investigation, 131(15):e148272. The American Society for Clinical Investigation
Engelke, U F H, van Outersterp, R E, Merx, J, van Geenen, F A M G, van Rooij, A, Berden, G, Huigen, M C D G, Kluijtmans, L A J, Peters, T M A, Al-Shekaili, H H, Leavitt, B R, de Vrieze, E, Broekman, S, van Wijk, E, Tseng, L A, Kulkarni, P, Rutjes, F P J T, Mecinović, J, Struys, E A, Jansen, L A, Gospe, S M, Mercimek-Andrews, S, Hyland, K, Willemsen, M A A P, Bok, L A, van Karnebeek, C D M, Wevers, R A, Boltje, T J, Oomens, J, Martens, J & Coene, K L M 2021, ' Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy ', Journal of Clinical Investigation, vol. 131, no. 15, e148272 . https://doi.org/10.1172/JCI148272
Journal of Clinical Investigation, 131
Engelke, U F, van Outersterp, R E, Merx, J, van Geenen, F A, van Rooij, A, Berden, G, Huigen, M C, Kluijtmans, L A, Peters, T M, Al-Shekaili, H H, Leavitt, B R, de Vrieze, E, Broekman, S, van Wijk, E, Tseng, L A, Kulkarni, P, Rutjes, F P, Mecinović, J, Struys, E A, Jansen, L A, Gospe, S M, Mercimek-Andrews, S, Hyland, K, Willemsen, M A, Bok, L A, Van Karnebeek, C D, Wevers, R A, Boltje, T J, Oomens, J, Martens, J & Coene, K L 2021, ' Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy ', Journal of Clinical Investigation, vol. 131, no. 15, e148272 . https://doi.org/10.1172/JCI148272
Journal of Clinical Investigation, 131, 15
J Clin Invest
Journal of clinical investigation, 131(15):e148272. The American Society for Clinical Investigation

Contains fulltext : 237516.pdf (Publisher’s version ) (Open Access) BackgroundPyridoxine-dependent epilepsy (PDE-ALDH7A1) is an inborn error of lysine catabolism that presents with refractory epilepsy in newborns. Biallelic ALDH7A1 variants lead to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::471fe467fa7a198066d44a682b4105e9
https://research.vumc.nl/en/publications/4a38f8f6-27d4-485c-ad8a-7e7e0fa52902

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