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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients (2017)

Grünert, Sarah Catharina ; Schlatter, Sonja Marina ; Schmitt, Robert Niklas ; Gemperle-Britschgi, Corinne ; Mrázová, Lenka ; Balcı, Mehmet Cihan ; Bischof, Felix ; Çoker, Mahmut ; Das, Anibh M. ; Demirkol, Mübeccel ; Vries, Maaike de ; Gökçay, Gülden ; Häberle, Johannes ; Uçar, Sema Kalkan ; Lotz-Havla, Amelie Sophia ; Lücke, Thomas ; Roland, Dominique ; Rutsch, Frank ; Santer, René ; Schlune, Andrea ; Staufner, Christian ; Schwab, Karl Otfried ; Mitchell, Grant A. ; Sass, Jörn Oliver

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency (2017)

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 ; Korenke, G. Christoph ; Lotz-Havla, Amelie Sophia ; Schlune, Andrea ; Staufner, Christian ; Tran, Christel ; Visser, Gepke ; Schwab, Karl Otfried ; Fukao, Toshiyuki ; Sass, Jörn Oliver

From rodent heart to inborn errors of human metabolism (2018)

Sass, Jörn Oliver ; Uçar, Sema Kalkan ; van Karnebeek, Clara D.M.

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