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Number of items: 6.

Keller, R; Chrastina, P; Pavlíková, M; Gouveia, S; Ribes, A; Kölker, S; Blom, H J; Baumgartner, M R; Bártl, J; Dionisi Vici, C; Gleich, F; Morris, A A; Kožich, V; Huemer, M; Barić, I; Ben-Omran, T; Blasco-Alonso, J; Bueno Delgado, M A; Carducci, C; Cassanello, M; Cerone, R; Couce, M L; Crushell, E; Delgado Pecellin, C; Dulin, E; Espada, M; Ferino, G; Fingerhut, R; et al (2018). Newborn screening for homocystinurias: recent recommendations versus current practice. Journal of Inherited Metabolic Disease:Epub ahead of print.

Kölker, S; Haberle, Johannes; Walker, V (2016). Urea cycle disorders. In: Hollak, C; Lachmann, R. Inherited metabolic disease in adults. Oxford, UK: Oxford University Press, 119-126, 585.

Ruppert, T; Schumann, A; Gröne, H J; Okun, J G; Kölker, S; Morath, M A; Sauer, S W (2015). Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria. Human Molecular Genetics, 24(24):7049-7059.

Haarmann, A; Mayr, M; Kölker, S; Baumgartner, E R; Schnierda, J; Hopfer, H; Devuyst, O; Baumgartner, M R (2013). Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: A 42-year follow-up. Molecular Genetics and Metabolism, 110(4):472-476.

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.

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.

This list was generated on Mon May 27 07:35:33 2019 CEST.