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Number of items: 19.

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.

Forny, Patrick; Schnellmann, Anne-Sophie; Buerer, Celine; Lutz, Seraina; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2016). Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. Human Mutation, 37(8):745-754.

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.

Trefz, Friedrich K; Scheible, Dagmar; Frauendienst-Egger, Georg; Huemer, Martina; Suomala, Terttu; Fowler, Brian; Haas, Dorothea; Baumgartner, Matthias R (2016). Successful intrauterine treatment of a patient with cobalamin C defect. Molecular Genetics and Metabolism Reports, 6:55-59.

Froese, D Sean; Kopec, Jolanta; Fitzpatrick, Fiona; Schuller, Marion; McCorvie, Thomas J; Chalk, Rod; Plessl, Tanja; Fettelschoss, Victoria; Fowler, Brian; Baumgartner, Matthias R; Yue, Wyatt W (2015). Structural insights into the MMACHC-MMADHC protein complex involved in vitamin B12 trafficking. Journal of Biological Chemistry, 290(49):29167-29177.

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.

Huemer, Martina; Scholl-Bürgi, Sabine; Hadaya, Karine; Kern, Ilse; Beer, Ronny; Seppi, Klaus; Fowler, Brian; Baumgartner, Matthias R; Karall, Daniela (2014). Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy. Orphanet Journal of Rare Diseases, 9:161.

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.

Fischer, Sabine; Huemer, Martina; Baumgartner, Matthias; Deodato, Federica; Ballhausen, Diana; Boneh, Avihu; Burlina, Alberto B; Cerone, Roberto; Garcia, Paula; Gökçay, Gülden; Grünewald, Stephanie; Häberle, Johannes; Jaeken, Jaak; Ketteridge, David; Lindner, Martin; Mandel, Hanna; Martinelli, Diego; Martins, Esmeralda G; Schwab, Karl O; Gruenert, Sarah C; Schwahn, Bernd C; Sztriha, László; Tomaske, Maren; Trefz, Friedrich; Vilarinho, Laura; Rosenblatt, David S; Fowler, Brian; Dionisi-Vici, Carlo (2014). Clinical presentation and outcome in a series of 88 patients with the cblC defect. Journal of Inherited Metabolic Disease, 37(5):831-840.

Baumgartner, Matthias R; Hörster, Friederike; Dionisi-Vici, Carlo; et al; Huemer, Martina; Hochuli, Michel; Fowler, Brian; Sass, Jörn (2014). Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet Journal of Rare Diseases, 9(130):online.

Baumgartner, Matthias; Fowler, Brian (2014). Vitamin B12 Disorders. In: Blau, Nenad; Duran, M; Gibson, K M; Dionisi-Vici, C. Physician's Guide to the Diagnosis, Treatment and Follow-up of Inherited Metabolic Diseases. Berlin: Springer Verlag, 205-218.

Fofou-Caillierez, Ma'atem B; Mrabet, Nadir T; Chéry, Céline; Dreumont, Natacha; Flayac, Justine; Pupavac, Mihaela; Paoli, Justine; Alberto, Jean-Marc; Coelho, David; Camadro, Jean-Michel; Feillet, François; Watkins, David; Fowler, Brian; Rosenblatt, David S; Guéant, Jean-Louis (2013). Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. Human Molecular Genetics, 22(22):4591-4601.

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; 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.

Stanger, Olaf; Fowler, Brian; Petrzik, Klaus; Huemer, Martina; Haschke-Becher, Elisabeth; Semmler, Alexander; Lorenzl, Stefan; Linnebank, Michael (2009). Homocysteine, folate and vitamin B12 in neuropsychiatric diseases: review and treatment recommendations. Expert Review of Neurotherapeutics, 9(9):1393-1412.

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 Dec 18 18:48:50 2017 CET.