When one disease is not enough: Succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria
| Document Type: | Article |
|---|---|
| Language: | English |
| Author: | Jan-Niclas Schwade, Matthias Endmann, Thomas Hofmann, Stephan Rust, Jörn Oliver Sass, Frank Rutsch |
| Parent Title (English): | Journal of Pediatric Endocrinology & Metabolism |
| Volume: | 30 |
| Issue: | 10 |
| First Page: | 1121 |
| Last Page: | 1124 |
| ISSN: | 2191-0251 |
| DOI: | https://doi.org/10.1515/jpem-2017-0177 |
| PMID: | https://pubmed.ncbi.nlm.nih.gov/28820737 |
| Publisher: | de Gruyter |
| Place of publication: | Berlin |
| Date of first publication: | 2017/08/18 |
| Copyright: | ©2017 Walter de Gruyter GmbH, Berlin/Boston |
| Keyword: | ketolysis; metabolic acidosis; phenylketonuria |
| Departments, institutes and facilities: | Fachbereich Angewandte Naturwissenschaften |
| Institut für funktionale Gen-Analytik (IFGA) | |
| Dewey Decimal Classification (DDC): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
| Entry in this database: | 2017/08/30 |
