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Number of items: 6.

Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean-Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L; Garcia-Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld-Adams, James D; Kožich, Viktor; Blom, Henk; Baumgartner, Matthias R; Dionisi-Vici, Carlo (2017). Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. Journal of Inherited Metabolic Disease, 40(1):21-48.

Morris, Andrew A M; Kožich, Viktor; Santra, Saikat; Andria, Generoso; Ben-Omran, Tawfeg I M; Chakrapani, Anupam B; Crushell, Ellen; Henderson, Mick J; Hochuli, Michel; Huemer, Martina; Janssen, Miriam C H; Maillot, Francois; Mayne, Philip D; McNulty, Jenny; Morrison, Tara M; Ogier, Helene; O'Sullivan, Siobhan; Pavlíková, Markéta; de Almeida, Isabel Tavares; Terry, Allyson; Yap, Sufin; Blom, Henk J; Chapman, Kimberly A (2017). Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. Journal of Inherited Metabolic Disease, 40(1):49-74.

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.

Huemer, Martina; Kožich, Viktor; Rinaldo, Piero; Baumgartner, Matthias R; Merinero, Begoña; Pasquini, Elisabetta; Ribes, Antonia; Blom, Henk J (2015). Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. Journal of Inherited Metabolic Disease, 38(6):1007-1019.

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.

This list was generated on Mon Jul 24 10:35:42 2017 CEST.