d-Glycerate kinase deficiency in a neuropediatric patient
| 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 |
| PMID: | https://pubmed.ncbi.nlm.nih.gov/31837836 |
| Publisher: | Elsevier |
| Date of first publication: | 2019/12/11 |
| Funding Information: | JOS thanks the Jurgen Manchot Stiftung (Dusseldorf, Germany) for financial support. He 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: | 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) | |
| 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: | 2020/01/04 |
