TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
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  - Korenke, G. Christoph
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
T1  - Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency
JF  - Molecular Genetics and Metabolism
KW  - Ketolysis
KW  - Enzyme activity
KW  - Fatty acid metabolism
KW  - Ketone body utilization
KW  - Isoleucine degradation
KW  - Beta-ketothiolase deficiency
SN  - 1096-7192
SS  - 1096-7192
U6  - https://doi.org/10.1016/j.ymgme.2017.06.012
DO  - https://doi.org/10.1016/j.ymgme.2017.06.012
PM  - 28689740
VL  - 122
IS  - 1-2
SP  - 67
EP  - 75
PB  - Elsevier
ER  -