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Number of items: 4.

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 (2017). Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency. Molecular Genetics and Metabolism, 122(1-2):67-75.

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; de Vries, Maaike; 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 (2017). 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. Molecular Genetics and Metabolism, 121(3):206-215.

Grünert, Sarah C; Müllerleile, Stephanie; De Silva, Linda; Barth, Michael; Walter, Melanie; Walter, Kerstin; Meissner, Thomas; Lindner, Martin; Ensenauer, Regina; Santer, René; Bodamer, Olaf A; Baumgartner, Matthias R; Brunner-Krainz, Michaela; Karall, Daniela; Haase, Claudia; Knerr, Ina; Marquardt, Thorsten; Hennermann, Julia B; Steinfeld, Robert; Beblo, Skadi; Koch, Hans-Georg; Konstantopoulou, Vassiliki; Scholl-Bürgi, Sabine; van Teeffelen-Heithoff, Agnes; Suormala, Terttu; Sperl, Wolfgang; Kraus, Jan P; Superti-Furga, Andrea; Schwab, Karl Otfried; Sass, Jörn Oliver (2013). Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet Journal of Rare Diseases, 8:6.

Nakamura, Makiko; Yuichiro, Yamaguchi; Sass, Jörn Oliver; Tomohiro, Matsumura; Schwab, Karl Otfried; Takeshi, Nishino; Tatsuo, Hosoya; Ichida, Kimiyoshi (2012). Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. Clinica Chimica Acta, 414C:158-160.

This list was generated on Sun Oct 21 10:36:16 2018 CEST.