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Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism

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Metadaten
Document Type:Article
Language:English
Author:Daniel Schulke, Jörn Oliver Sass
Parent Title (English):Biochimie
Volume:183
Issue:April 2021
First Page:30
Last Page:34
ISSN:0300-9084
DOI:https://doi.org/10.1016/j.biochi.2021.02.002
PMID:https://pubmed.ncbi.nlm.nih.gov/33567294
Publisher:Elsevier
Place of publication:Paris
Date of first publication:2021/02/07
Copyright:© 2021 Elsevier B.V. and Société Française de Biochimie et Biologie Moléculaire (SFBBM). All rights reserved.
Funding:This research was supported by Heinz und Heide Durr Stiftung and Gottfried und Julia Bangerter-Rhyner-Stiftung, both to J.O.S. D.S, is recipient of a fellowship by the Graduate Institute of BonnRhein-Sieg University of Applied Sciences. J.O.S. also gratefully acknowledges financial support by the programs FH-Struktur (`FunForGen', 322-08-03-04-02) and FH Zeit fur Forschung (`KETOplus', 005-1703-0016) of the Ministry of Culture and Science of the German State of North Rhine-Westphalia.
Keyword:Glycine N-Acyltransferase (GLYAT); Glycine conjugation; Isovaleric acidemia; Organic acids; Phase II reaction; Urea cycle defect
Departments, institutes and facilities:Fachbereich Angewandte Naturwissenschaften
Institut für funktionale Gen-Analytik (IFGA)
Projects:FunForGen - Funktionale und forensische Genomik mittels Next Generation Sequencing (DE/MKW NRW/322-08-03-04-02)
KETOplus - Ketonkörper: Mehr als nur Energieträger! (DE/MKW NRW/005-1703-0016)
Dewey Decimal Classification (DDC):5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie
Entry in this database:2021/02/10