Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II

Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II

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.

Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Nature Portfolio 2022-09-01
Series:Communications Biology
Online Access:https://doi.org/10.1038/s42003-022-03960-2

Internet

https://doi.org/10.1038/s42003-022-03960-2

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