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 |
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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 |