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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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Document Type:Article
Parent Title (English):Monatsschr Kinderheilkd. (Monatsschrift Kinderheilkunde)
First Page:373
Publisher:Springer Medizin Verlag
Date of first publication:2019/03/08
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