Torthaí cuardaigh - Suormala, Terttu

Cryptic Exon Activation by Disruption of Exon Splice Enhancer: NOVEL MECHANISM CAUSING 3-METHYLCROTONYL-CoA CARBOXYLASE DEFICIENCY de réir Stucki, Martin, Suormala, Terttu, Fowler, Brian, Valle, David, Baumgartner, Matthias R.

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Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl‐CoA Mutase (MUT) Deficiency de réir Forny, Patrick, Froese, D. Sean, Suormala, Terttu, Yue, Wyatt W., Baumgartner, Matthias R.

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The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency de réir Baumgartner, Matthias R., Almashanu, Shlomo, Suormala, Terttu, Obie, Cassandra, Cole, Robert N., Packman, Seymour, Baumgartner, E. Regula, Valle, David

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Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy de réir Baumgartner, Matthias R., Dantas, M. Fernanda, Suormala, Terttu, Almashanu, Shlomo, Giunta, Cecilia, Friebel, Dolores, Gebhardt, Boris, Fowler, Brian, Hoffmann, Georg F., Baumgartner, E. Regula, Valle, David

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Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition de réir Froese, D. Sean, Kopec, Jolanta, Rembeza, Elzbieta, Bezerra, Gustavo Arruda, Oberholzer, Anselm Erich, Suormala, Terttu, Lutz, Seraina, Chalk, Rod, Borkowska, Oktawia, Baumgartner, Matthias R., Yue, Wyatt W.

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Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency de réir Heuberger, Kathrin, Bailey, Henry J., Burda, Patricie, Chaikuad, Apirat, Krysztofinska, Ewelina, Suormala, Terttu, Bürer, Céline, Lutz, Seraina, Fowler, Brian, Froese, D. Sean, Yue, Wyatt W., Baumgartner, Matthias R.

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Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B(12)-trafficking proteins ABCD4 and LMBD1 de réir Fettelschoss, Victoria, Burda, Patricie, Sagné, Corinne, Coelho, David, De Laet, Corinne, Lutz, Seraina, Suormala, Terttu, Fowler, Brian, Pietrancosta, Nicolas, Gasnier, Bruno, Bornhauser, Beat, Froese, D. Sean, Baumgartner, Matthias R.

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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 enzy... de réir 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

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3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals de réir 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

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An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1 de réir 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.

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Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients de réir 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

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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency de réir Huemer, Martina, Mulder-Bleile, Regina, Burda, Patricie, Froese, D. Sean, Suormala, Terttu, Zeev, Bruria Ben, Chinnery, Patrick, Dionisi-Vici, Carlo, Dobbelaere, Dries, Gökcay, Gülden, Häberle, Johannes, Lossos, Alexander, Mengel, Eugen, Morris, Andrew, Niezen-Koning, Klary E., Plecko, Barbara, Parini, Rosella, Rokicki, Dariusz, Schiff, Manuel, Schimmel, Mareike, Sewell, Adrian, Sperl, Wolfgang, Spiekerkötter, Ute, Steinmann, Beat, Tadeucci, Grazia, Trejo, Jose, Trefz, Friedrich, Tsuji, Megumi, Vilaseca, María Antònia, von Kleist-Retzow, Jürgen-Christoph, Walker, Valerie, Zeman, Jiri, Baumgartner, Matthias R., Fowler, Brian

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