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Steinmann, B; Santer, R (2016). Disorders of fructose metabolism. In: Saudubray, J M; Baumgartner, M R; Walters, J. Inborn Metabolic Diseases-Diagnosis and Treatment. Berlin Heidelberg: Springer, Berlin, 161-168.

Kraus, J P; Spector, E; Venezia, S; Estes, P; Chiang, P W; Creadon-Swindell, G; Müllerleile, S; de Silva, L; Barth, M; Walter, M; Walter, K; Meissner, T; Lindner, M; Ensenauer, R; Santer, R; Bodamer, O A; Baumgartner, M R; Brunner-Krainz, M; Karall, D; Haase, C; Knerr, I; Marquardt, T; Hennermann, J B; Steinfeld, R; Beblo, S; Koch, H G; Konstantopoulou, V; Scholl-Bürgi, S; van Teeffelen-Heithoff, A; Suormala, T; Ugarte, M; Sperl, W; Superti-Furga, A; Schwab, K O; Grünert, S C; Sass, J O (2012). Mutation analysis in 54 propionic acidemia patients. Journal of Inherited Metabolic Disease, 35(1):51-63.

Grünert, S C; Müllerleile, S; de Silva, L; Barth, M; Walter, M; Walter, K; Meissner, T; Lindner, M; Ensenauer, R; Santer, R; Bodamer, O A; Baumgartner, M R; Brunner-Krainz, M; Karall, D; Haase, C; Knerr, I; Marquardt, T; Hennermann, J B; Steinfeld, R; Beblo, S; Koch, H G; Konstantopoulou, V; Scholl-Bürgi, S; van Teeffelen-Heithoff, A; Suormala, T; Sperl, W; Kraus, J P; Superti-Furga, A; Schwab, K O; Sass, J O (2012). Propionic acidemia: neonatal versus selective metabolic screening. Journal of Inherited Metabolic Disease, 35(1):41-49.

Steinmann, B; Santer, R (2012). Disorders of Fructose Metabolism. In: Saudubray, G; van den Berghe, G; Walter, J H. Inborn Metabolic Diseases - Diagnosis and Treatment. Berlin: Springer, 157-165.

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.

Jäggi, L; Zurflüh, M R; Schuler, A; Ponzone, A; Porta, F; Fiori, L; Giovannini, M; Santer, R; Hoffmann, G F; Ibel, H; Wendel, U; Ballhausen, D; Baumgartner, M R; Blau, N (2008). Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Molecular Genetics and Metabolism, 93(3):295-305.

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