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Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency

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Metadaten
Document Type:Article
Language:English
Author:Sarah Catharina Grünert, Robert Niklas Schmitt, Sonja Marina Schlatter, Corinne Gemperle-Britschgi, Mehmet Cihan Balcı, Volker Berg, Mahmut Çoker, Anibh M. Das, Mübeccel Demirkol, Terry G. J. Derks, Gülden Gökçay, Sema Kalkan Uçar, Vassiliki Konstantopoulou, G. Christoph Korenke, Amelie Sophia Lotz-Havla, Andrea Schlune, Christian Staufner, Christel Tran, Gepke Visser, Karl Otfried Schwab, Toshiyuki Fukao, Jörn Oliver Sass
Parent Title (English):Molecular Genetics and Metabolism
Volume:122
Issue:1-2
First Page:67
Last Page:75
ISSN:1096-7192
DOI:https://doi.org/10.1016/j.ymgme.2017.06.012
PMID:https://pubmed.ncbi.nlm.nih.gov/28689740
Publisher:Elsevier
Date of first publication:2017/06/27
Keyword:Beta-ketothiolase deficiency; Enzyme activity; Fatty acid metabolism; Isoleucine degradation; Ketolysis; Ketone body utilization
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:2017/07/14