3-Hydroxyisobutyric Acid Dehydrogenase Deficiency: Expanding the Clinical Spectrum and Quantitation of D- and L-3-Hydroxyisobutyric Acid by an LC-MS/MS Method
| Document Type: | Article |
|---|---|
| Language: | English |
| Author: | Florin Sasarman, Sacha Ferdinandusse, David S. Sinasac, Ernest Fung, Rebecca Sparkes, Melanie Reeves, Catherine Rombough, Jörn Oliver Sass, Renate Voit, Jos P. N. Ruiter, Janet Koster, Hans R. Waterham, Elisabetta Pasquini, Maria A. Donati, Thorsten Marquardt, Ronald J. A. Wanders, Walla Al-Hertani |
| Parent Title (English): | Journal of Inherited Metabolic Disease |
| Volume: | 45 |
| Issue: | 3 |
| First Page: | 445 |
| Last Page: | 455 |
| ISSN: | 0141-8955 |
| DOI: | https://doi.org/10.1002/jimd.12486 |
| PMID: | https://pubmed.ncbi.nlm.nih.gov/35174513 |
| Publisher: | Wiley |
| Date of first publication: | 2022/02/16 |
| Copyright: | © 2022 SSIEM. |
| Funding: | J. O. Sass gratefully acknowledges financial support by the programs FH Zeit fur Forschung ("KETOplus", 005-1703-0016) and FH-Struktur ("FunForGen", 322-08-03-04-02) of the Ministry of Culture and Science of the German State of North Rhine-Westphalia. |
| Keyword: | 3-hydroxyisobutyrate dehydrogenase; 3-hydroxyisobutyric acid dehydrogenase deficiency; 3-hydroxyisobutyric aciduria; HIBADH; HIBADH deficiency; valine catabolic pathway |
| 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): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
| Entry in this database: | 2022/02/23 |
