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1 Ergebnisse
1
Clinical presentation and outcome in a series of 32 patient..:
Grünert, Sarah Catharina
;
Schmitt, Robert Niklas
;
Schlatter, Sonja Marina
...
https://research.rug.nl/en/publications/7c6dda46-746a-4167-9e7e-b6de9a37c932. , 2017
Link:
https://hdl.handle.net/11370/7c6dda46-746a-4167-9e7e-b..
RT Journal T1
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency
UL https://suche.suub.uni-bremen.de/peid=base-ftunigroningenpu:oai:pure.rug.nl:publications_7c6dda46-746a-4167-9e7e-b6de9a37c932&Exemplar=1&LAN=DE A1 Grünert, Sarah Catharina A1 Schmitt, Robert Niklas A1 Schlatter, Sonja Marina A1 Gemperle-Britschgi, Corinne A1 Balcı, Mehmet Cihan A1 Berg, Volker A1 Çoker, Mahmut A1 Das, Anibh M A1 Demirkol, Mübeccel A1 Derks, Terry G J A1 Gökçay, Gülden A1 Uçar, Sema Kalkan A1 Konstantopoulou, Vassiliki A1 Christoph Korenke, G A1 Lotz-Havla, Amelie Sophia A1 Schlune, Andrea A1 Staufner, Christian A1 Tran, Christel A1 Visser, Gepke A1 Schwab, Karl Otfried A1 Fukao, Toshiyuki A1 Sass, Jörn Oliver YR 2017 K1 Beta-ketothiolase deficiency K1 Ketone body utilization K1 Ketolysis K1 Fatty acid metabolism K1 Isoleucine degradation K1 Enzyme activity K1 MITOCHONDRIAL ACETOACETYL-COENZYME K1 TANDEM MASS-SPECTROMETRY K1 URINARY ORGANIC-ACID K1 T2 DEFICIENCY K1 A THIOLASE K1 3-KETOTHIOLASE DEFICIENCY K1 ISOLEUCINE CATABOLISM K1 T2-DEFICIENT PATIENTS K1 JAPANESE PATIENTS JF https://research.rug.nl/en/publications/7c6dda46-746a-4167-9e7e-b6de9a37c932 LK http://dx.doi.org/https://hdl.handle.net/11370/7c6dda46-746a-4167-9e7e-b6de9a37c932 DO https://hdl.handle.net/11370/7c6dda46-746a-4167-9e7e-b6de9a37c932 SF ELIB - SuUB Bremen
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