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d-Glycerate kinase deficiency in a neuropediatric patient

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Metadaten
Document Type:Article
Language:English
Author:Jörn Oliver Sass, Sidney Behringer, Malkanthi Fernando, Elisabetta Cesaroni, Ida Cursio, Alberto Volpini, Claudia Till
Parent Title (English):Brain and Development
Volume:42
Issue:2
First Page:226
Last Page:230
ISSN:0387-7604
DOI:https://doi.org/10.1016/j.braindev.2019.11.008
Pubmed Id:http://www.ncbi.nlm.nih.gov/pubmed?term=31837836
Publisher:Elsevier
Date of first publication:2019/12/11
Tag:GLYCTK; Inborn error of metabolism; Organic aciduria; Splicing; d-Glycerate kinase deficiency; d-Glyceric aciduria
Departments, institutes and facilities:Fachbereich Angewandte Naturwissenschaften
Institut für funktionale Gen-Analytik (IFGA)
Dewey Decimal Classification (DDC):5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie
Entry in this database:2020/01/04