@article{GruenertSchmittSchlatteretal.2017, author = {Sarah Catharina Gr{\"u}nert and Robert Niklas Schmitt and Sonja Marina Schlatter and Corinne Gemperle-Britschgi and Mehmet Cihan Balcı and Volker Berg and Mahmut {\c{C}}oker and Anibh M. Das and M{\"u}beccel Demirkol and Terry G. J. Derks and G{\"u}lden G{\"o}k{\c{c}}ay and Sema Kalkan U{\c{c}}ar and Vassiliki Konstantopoulou and G. Christoph Korenke and Amelie Sophia Lotz-Havla and Andrea Schlune and Christian Staufner and Christel Tran and Gepke Visser and Karl Otfried Schwab and Toshiyuki Fukao and J{\"o}rn Oliver Sass}, title = {Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency}, series = {Molecular Genetics and Metabolism}, volume = {122}, number = {1-2}, publisher = {Elsevier}, issn = {1096-7192}, doi = {10.1016/j.ymgme.2017.06.012}, pages = {67 -- 75}, year = {2017}, language = {en} }