Zobrazeno 1 - 2
of 2
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