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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

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