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Number of items: 5.

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.

Pineda, M; Wraith, J E; Mengel, E; Sedel, F; Hwu, W L; Rohrbach, M; Bembi, B; Walterfang, M; Korenke, G C; Marquardt, T; Luzy, C; Giorgino, R; Patterson, M C (2009). Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Molecular Genetics and Metabolism, 98(3):243-249.

Rutsch, F; Gailus, S; Miousse, I R; Suormala, T; Sagné, C; Toliat, M R; Nürnberg, G; Wittkampf, T; Buers, I; Sharifi, A; Stucki, M; Becker, C; Baumgartner, M; Robenek, H; Marquardt, T; Höhne, W; Gasnier, B; Rosenblatt, D S; Fowler, B; Nürnberg, P (2009). Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nature Genetics, 41(2):234-239.

Vermeulen, T; Marquardt, T; Häberle, J (2009). Pseudodeficiency of glutamine in infant liver disease. Amino Acids, 37(2):435-437.

This list was generated on Tue Jul 25 08:58:24 2017 CEST.