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Number of items: 12.

Burda, Patricie; Suormala, Terttu; Heuberger, Dorothea; Schäfer, Alexandra; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2017). Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system. Journal of Inherited Metabolic Disease, 40(2):297-306.

Froese, D Sean; Huemer, Martina; Suormala, Terttu; Burda, Patricie; Coelho, David; Guéant, Jean-Louis; Landolt, Markus A; Kožich, Viktor; Fowler, Brian; Baumgartner, Matthias R (2016). Mutation update and review of severe methylenetetrahydrofolate reductase deficiency. Human Mutation, 37(5):427-438.

Burda, Patricie; Schäfer, Alexandra; Suormala, Terttu; Rummel, Till; Bürer, Céline; Heuberger, Dorothea; Frapolli, Michele; Giunta, Cecilia; Sokolová, Jitka; Vlášková, Hana; Kožich, Viktor; Koch, Hans Georg; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2015). Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. Human Mutation, 36(6):611-621.

Palhais, Bruno; Præstegaard, Veronica S; Sabaratnam, Rugivan; Doktor, Thomas Koed; Lutz, Seraina; Burda, Patricie; Suormala, Terttu; Baumgartner, Matthias; Fowler, Brian; Bruun, Gitte Hoffmann; Andersen, Henriette Skovgaard; Kožich, Viktor; Andresen, Brage Storstein (2015). Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells. Nucleic Acids Research, 43(9):4627-4639.

Forny, Patrick; Froese, D Sean; Suormala, Terttu; Yue, Wyatt W; Baumgartner, Matthias R (2014). Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl-CoA Mutase (MUT) Deficiency. Human Mutation, 35(12):1449-1458.

Jusufi, Jehona; Suormala, Terttu; Burda, Patricie; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2014). Characterization of functional domains of the cblD (MMADHC) gene product. Journal of Inherited Metabolic Disease, 37(5):841-849.

Yu, Hung-Chun; Sloan, Jennifer L; Scharer, Gunter; Brebner, Alison; Quintana, Anita M; Achilly, Nathan P; Manoli, Irini; Coughlin, Curtis R; Geiger, Elizabeth A; Schneck, Una; Watkins, David; Suormala, Terttu; Van Hove, Johan L K; Fowler, Brian; Baumgartner, Matthias R; Rosenblatt, David S; Venditti, Charles P; Shaikh, Tamim H (2013). An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. American Journal of Human Genetics, 93(3):506-514.

Grünert, Sarah C; Müllerleile, Stephanie; De Silva, Linda; Barth, Michael; Walter, Melanie; Walter, Kerstin; Meissner, Thomas; Lindner, Martin; Ensenauer, Regina; Santer, René; Bodamer, Olaf A; Baumgartner, Matthias R; Brunner-Krainz, Michaela; Karall, Daniela; Haase, Claudia; Knerr, Ina; Marquardt, Thorsten; Hennermann, Julia B; Steinfeld, Robert; Beblo, Skadi; Koch, Hans-Georg; Konstantopoulou, Vassiliki; Scholl-Bürgi, Sabine; van Teeffelen-Heithoff, Agnes; Suormala, Terttu; Sperl, Wolfgang; Kraus, Jan P; Superti-Furga, Andrea; Schwab, Karl Otfried; Sass, Jörn Oliver (2013). Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet Journal of Rare Diseases, 8:6.

Grünert, Sarah C; Stucki, Martin; Morscher, Raphael J; Suormala, Terttu; Bürer, Celine; Burda, Patricie; Christensen, Ernst; Ficicioglu, Can; Herwig, Jürgen; Kölker, Stefan; Möslinger, Dorothea; Pasquini, Elisabetta; Santer, René; Schwab, K Otfried; Wilcken, Bridget; Fowler, Brian; Yue, Wyatt W; Baumgartner, Matthias R (2012). 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet Journal of Rare Diseases, 7:31.

Stucki, Martin; Coelho, David; Suormala, Terttu; Burda, Patricie; Fowler, Brian; Baumgartner, Matthias R (2012). Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. Human Molecular Genetics, 21(6):1410-1418.

Coelho, David; Kim, Jaeseung C; Miousse, Isabelle R; Fung, Stephen; du Moulin, Marcel; Buers, Insa; Suormala, Terttu; Burda, Patricie; Frapolli, Michele; Stucki, Martin; Nürnberg, Peter; Thiele, Holger; Robenek, Horst; Höhne, Wolfgang; Longo, Nicola; Pasquali, Marzia; Mengel, Eugen; Watkins, David; Shoubridge, Eric A; Majewski, Jacek; Rosenblatt, David S; Fowler, Brian; Rutsch, Frank; Baumgartner, Matthias R (2012). Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism. Nature Genetics, 44(10):1152-1155.

Suormala, Terttu; Baumgartner, Matthias; Fowler, Brian (2008). Biotinidase. In: Blau, Nenad; Duran, Marinus; Gibson, K Michael. Laboratory Guide to the Methods in Biochemical Genetics. Berlin: Springer Verlag, 253-264.

This list was generated on Mon Jul 24 07:05:43 2017 CEST.