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Disorders of ketone body transport and utilization as a cause of recurrent metabolic acidosis: succinyl-coenzyme A: 3-oxoacyl coenzyme A transferase (SCOT) deficiency (mutations in the OXCT1 gene) and monocarboxylate transporter 1 (MCT1) deficiency

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Metadaten
Document Type:Article
Language:English
Author:S. Roloff, L. Stübbe, C. Gemperle-Britschgi, R. Yamamoto, J. Hennermann, N. Weinhold, J. O. Sass
Parent Title (English):Monatsschrift Kinderheilkunde
Volume:167
Issue:4
First Page:373
ISSN:0026-9298
URL:https://link.springer.com/article/10.1007/s00112-019-0665-9
Publisher:Springer Medizin Verlag
Date of first publication:2019/03/08
Note:
Abstracts of the 33rd Annual Conference of the Arbeitsgemeinschaft
für Pädiatrische Stoffwechselstörungen (APS), Fulda, 13.–16. März 2019
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:2019/05/03