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Number of items: 6.

Willemsen, M A; Verbeek, M M; Kamsteeg, E J; de Rijk-van Andel, J F; Aeby, A; Blau, N; Burlina, A; Donati, M A; Geurtz, B; Grattan-Smith, P J; Haeussler, M; Hoffmann, G F; Jung, H; de Klerk, J B; van der Knaap, M S; Kok, F; Leuzzi, V; de Lonlay, P; Megarbane, A; Monaghan, H; Renier, W O; Rondot, P; Ryan, M M; Seeger, J; Smeitink, J A; Steenbergen-Spanjers, G C; Wassmer, E; Weschke, B; Wijburg, F A; Wilcken, B; Zafeiriou, D I; Wevers, R A (2010). Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain: A Journal of Neurology, 133(6):1810-1822.

Hörster, F; Garbade, S F; Zwickler, T; Aydin, H I; Bodamer, O A; Burlina, A B; Das, A M; De Klerk, J B; Dionisi-Vici, C; Geb, S; Gökcay, G; Guffon, N; Maier, E M; Morava, E; Walter, J H; Schwan, B; Wijburg, F A; Lindner, M; Grünewald, S; Baumgartner, M R; Kölker, S (2009). Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. Journal of Inherited Metabolic Disease, 32(5):630-639.

Wraith, J E; Baumgartner, M R; Bembi, B; Covanis, A; Levade, T; Mengel, E; Pineda, M; Sedel, F; Topçu, M; Vanier, M T; Widner, H; Wijburg, F A; Patterson, M C (2009). Recommendations on the diagnosis and management of Niemann-Pick disease type C. Molecular Genetics and Metabolism, 98(1-2):152-165.

Spiekerkoetter, U; Lindner, M; Santer, R; Grotzke, M; Baumgartner, M R; Boehles, H; Das, A; Haase, C; Hennermann, J B; Karall, D; de Klerk, H; Knerr, I; Koch, H G; Plecko, B; Röschinger, W; Schwab, K O; Scheible, D; Wijburg, F A; Zschocke, J; Mayatepek, E; Wendel, U (2009). Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. Journal of Inherited Metabolic Disease, 32(4):488-497.

Spiekerkoetter, U; Lindner, M; Santer, R; Grotzke, M; Baumgartner, M R; Boehles, H; Das, A; Haase, C; Hennermann, J B; Karall, D; de Klerk, H; Knerr, I; Koch, H G; Plecko, B; Röschinger, W; Schwab, K O; Scheible, D; Wijburg, F A; Zschocke, J; Mayatepek, E; Wendel, U (2009). Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. Journal of Inherited Metabolic Disease, 32(4):498-505.

Zwickler, T; Lindner, M; Aydin, H I; Baumgartner, M R; Bodamer, O A; Burlina, A B; Das, A M; DeKlerk, J B C; Gökcay, G; Grünewald, S; Guffon, N; Maier, E M; Morava, E; Geb, S; Schwahn, B; Walter, J H; Wendel, U; Wijburg, F A; Müller, E; Kölker, S; Hörster, F (2008). Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. Journal of Inherited Metabolic Disease, 31(3):361-367.

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