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Baumgartner, Matthias; Suormala, T (2016). Biotin responsive multiple carboxylase deficiencies. In: Saudubray, Jean-Marie; Baumgartner, Matthias; Walter, John. Inborn metabolic diseases : diagnosis and treatment. Berlin Heidelberg: Springer Berlin Heidelberg, 375-383.

Burda, P; Kuster, A; Hjalmarson, O; Suormala, T; Bürer, C; Lutz, S; Roussey, G; Christa, L; Asin-Cayuela, J; Kollberg, G; Andersson, B A; Watkins, D; Rosenblatt, D S; Fowler, B; Holme, E; Froese, D S; Baumgartner, M R (2015). Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. Journal of Inherited Metabolic Disease, 38(5):863-872.

Huemer, M; Bürer, C; Ješina, P; Kožich, V; Landolt, M A; Suormala, T; Fowler, B; Augoustides-Savvopoulou, P; Blair, E; Brennerova, K; Broomfield, A; De Meirleir, L; Gökcay, G; Hennermann, J; Jardine, P; Koch, J; Lorenzl, S; Lotz-Havla, A S; Noss, J; Parini, R; Peters, H; Plecko, B; Ramos, F J; Schlune, A; Tsiakas, K; Zerjav Tansek, M; Baumgartner, M R (2015). Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. Journal of Inherited Metabolic Disease, 38(5):957-967.

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.

Morscher, R J; Grünert, S C; Bürer, C; Burda, P; Suormala, T; Fowler, B; Baumgartner, M R (2012). A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. Molecular Genetics and Metabolism, 105(4):602-606.

Baumgartner, M R; Suormala, T (2012). Biotin-responsive disorders. In: Saudubray, J M; van den Berghe, G; Walter, J H. Inborn metabolic diseases: diagnosis and treatment (5th ed.). Berlin, DE: Springer, 375-384.

Stucki, M; Suormala, T; Fowler, B; Valle, D; Baumgartner, M R (2009). Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. Journal of Biological Chemistry, 284(42):28953-28957.

Lerner-Ellis, J P; Anastasio, N; Liu, J; Coelho, D; Suormala, T; Stucki, M; Loewy, A D; Gurd, S; Grundberg, E; Morel, C F; Watkins, D; Baumgartner, M R; Pastinen, T; Rosenblatt, D S; Fowler, B (2009). Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Human Mutation, 30(7):1072-1081.

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.

Coelho, D; Suormala, T; Stucki, M; Lerner-Ellis, J P; Rosenblatt, D S; Newbold, R F; Baumgartner, M R; Fowler, B (2008). Gene identification for the cblD defect of vitamin B12 metabolism. New England Journal of Medicine, 358(14):1454-1464.

This list was generated on Thu Jul 20 16:42:54 2017 CEST.