Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency
| Autor: | Grünert, Sarah Catharina, Schmitt, Robert Niklas, Schlatter, Sonja Marina, Gemperle-Britschgi, Corinne, Balcı, Mehmet Cihan, Berg, Volker, Çoker, Mahmut, Das, Anibh M., Demirkol, Mübeccel, Derks, Terry G.J., Gökçay, Gülden, Uçar, Sema Kalkan, Konstantopoulou, Vassiliki, Christoph Korenke, G., Lotz-Havla, Amelie Sophia, Schlune, Andrea, Staufner, Christian, Tran, Christel, Visser, Gepke, Schwab, Karl Otfried, Fukao, Toshiyuki, Sass, Jörn Oliver |
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| Zdroj: | In Molecular Genetics and Metabolism September 2017 122(1-2):67-75 |
| Databáze: | ScienceDirect |
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