Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Huub W. A. H. Waterval"'
Autor:
Jona Merx, Rianne E. van Outersterp, Udo F. H. Engelke, Veronique Hendriks, Ron A. Wevers, Marleen C. D. G. Huigen, Huub W. A. H. Waterval, Irene M. L. W. Körver-Keularts, Jasmin Mecinović, Floris P. J. T. Rutjes, Jos Oomens, Karlien L. M. Coene, Jonathan Martens, Thomas J. Boltje
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-8 (2022)
Combined metabolomics, NMR, and, IRIS identify biomarkers of hyperprolinemia type II (HPII) distinct from HPI and similar metabolic signatures as in patients with pyridoxine-dependent epilepsy.
Externí odkaz:
https://doaj.org/article/1073313437ec4eb190f04bb0c6441ddf
Autor:
Jona Merx, Rianne E. van Outersterp, Udo F. H. Engelke, Veronique Hendriks, Ron A. Wevers, Marleen C. D. G. Huigen, Huub W. A. H. Waterval, Irene M. L. W. Körver-Keularts, Jasmin Mecinović, Floris P. J. T. Rutjes, Jos Oomens, Karlien L. M. Coene, Jonathan Martens, Thomas J. Boltje
Publikováno v:
Communications Biology, 5(1):997. Nature Publishing Group
Communications Biology, 5, 1-8
Communications Biology, 5, 1, pp. 1-8
Communications Biology, 5, 1-8
Communications Biology, 5, 1, pp. 1-8
Hyperprolinemia type II (HPII) is an inborn error of metabolism due to genetic variants in ALDH4A1, leading to a deficiency in Δ-1-pyrroline-5-carboxylate (P5C) dehydrogenase. This leads to an accumulation of toxic levels of P5C, an intermediate in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bc95a01bd273c08093fa8d2871bb363
https://hdl.handle.net/2066/282704
https://hdl.handle.net/2066/282704
Autor:
Merx, Jona1 (AUTHOR), van Outersterp, Rianne E.2 (AUTHOR), Engelke, Udo F. H.3 (AUTHOR), Hendriks, Veronique1 (AUTHOR), Wevers, Ron A.3,4 (AUTHOR), Huigen, Marleen C. D. G.3,4 (AUTHOR), Waterval, Huub W. A. H.5 (AUTHOR), Körver-Keularts, Irene M. L. W.4,5 (AUTHOR), Mecinović, Jasmin6 (AUTHOR), Rutjes, Floris P. J. T.1 (AUTHOR), Oomens, Jos2 (AUTHOR), Coene, Karlien L. M.3,4,7 (AUTHOR), Martens, Jonathan2 (AUTHOR) jonathan.martens@ru.nl, Boltje, Thomas J.1 (AUTHOR) thomas.boltje@ru.nl
Publikováno v:
Communications Biology. 9/21/2022, Vol. 5 Issue 1, p1-8. 8p.
Autor:
Steinbusch, Laura K.M., Wang, Ping, Waterval, Huub W.A.H., Stassen, Fons A.P.M., Coene, Karlien L.M., Engelke, Udo F.H., Habets, Daphna D.J., Bierau, Jörgen, Körver‐Keularts, Irene M.L.W.
Publikováno v:
Journal of Inherited Metabolic Disease; Sep2021, Vol. 44 Issue 5, p1113-1123, 11p
Autor:
Körver-Keularts, Irene M. L. W., Wang, Ping, Waterval, Huub W. A. H., Kluijtmans, Leo A. J., Wevers, Ron A., Langhans, Claus-Dieter, Scott, Camilla, Habets, Daphna D. J., Bierau, Jörgen
Publikováno v:
Journal of Inherited Metabolic Disease; May2018, Vol. 41 Issue 3, p415-424, 10p