| Vitamin B12, folate, and the methionine remethylation cycle—biochemistry, pathways, and regulation DS Froese, B Fowler, MR Baumgartner Journal of inherited metabolic disease 42 (4), 673-685, 2019 | 242 | 2019 |
| Genetic disorders of vitamin B12 metabolism: eight complementation groups-eight genes DS Froese, RA Gravel Expert reviews in molecular medicine 12, 2010 | 161 | 2010 |
| Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation DS Froese, G Kochan, JRC Muniz, X Wu, C Gileadi, E Ugochukwu, ... Journal of Biological Chemistry 285 (49), 38204-38213, 2010 | 123 | 2010 |
| Mutation update and review of severe methylenetetrahydrofolate reductase deficiency DS Froese, M Huemer, T Suormala, P Burda, D Coelho, JL Guéant, ... Human mutation 37 (5), 427-438, 2016 | 103 | 2016 |
| A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients JL Guéant, C Chéry, A Oussalah, J Nadaf, D Coelho, T Josse, J Flayac, ... Nature Communications 9 (1), 67, 2018 | 75 | 2018 |
| A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients JL Guéant, C Chéry, A Oussalah, J Nadaf, D Coelho, T Josse, J Flayac, ... Nature communications 9 (1), 67, 2018 | 75 | 2018 |
| Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation M Riemersma, DS Froese, W van Tol, UF Engelke, J Kopec, ... Chemistry & biology 22 (12), 1643-1652, 2015 | 74 | 2015 |
| Insights into Severe 5, 10‐Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients P Burda, A Schäfer, T Suormala, T Rummel, C Bürer, D Heuberger, ... Human mutation 36 (6), 611-621, 2015 | 67 | 2015 |
| Mechanism of vitamin B 12-responsiveness in cblC methylmalonic aciduria with homocystinuria DS Froese, J Zhang, S Healy, RA Gravel Molecular genetics and metabolism 98 (4), 338-343, 2009 | 67 | 2009 |
| Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design DS Froese, A Michaeli, TJ McCorvie, T Krojer, M Sasi, E Melaev, ... Human molecular genetics 24 (20), 5667-5676, 2015 | 63 | 2015 |
| Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency M Huemer, R Mulder-Bleile, P Burda, DS Froese, T Suormala, BB Zeev, ... Journal of inherited metabolic disease 39, 115-124, 2016 | 58 | 2016 |
| Conformational plasticity of glycogenin and its maltosaccharide substrate during glycogen biogenesis A Chaikuad, DS Froese, G Berridge, F von Delft, U Oppermann, WW Yue Proceedings of the National Academy of Sciences 108 (52), 21028-21033, 2011 | 56 | 2011 |
| Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder DS Froese, S Healy, M McDonald, G Kochan, U Oppermann, FH Niesen, ... Molecular genetics and metabolism 100 (1), 29-36, 2010 | 55 | 2010 |
| Structural basis for the regulation of human 5, 10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition DS Froese, J Kopec, E Rembeza, GA Bezerra, AE Oberholzer, ... Nature communications 9 (1), 2261, 2018 | 54 | 2018 |
| Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl‐CoA Mutase (MUT) Deficiency P Forny, DS Froese, T Suormala, WW Yue, MR Baumgartner Human mutation 35 (12), 1449-1458, 2014 | 52 | 2014 |
| Structure of MMACHC reveals an arginine-rich pocket and a domain-swapped dimer for its B12 processing function DS Froese, T Krojer, X Wu, R Shrestha, W Kiyani, F von Delft, RA Gravel, ... Biochemistry 51 (25), 5083-5090, 2012 | 50 | 2012 |
| Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry M Huemer, D Diodato, D Martinelli, G Olivieri, H Blom, F Gleich, S Kölker, ... Journal of inherited metabolic disease, 1-19, 2018 | 46 | 2018 |
| Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment P Burda, A Kuster, O Hjalmarson, T Suormala, C Bürer, S Lutz, G Roussey, ... Journal of inherited metabolic disease 38 (5), 863-872, 2015 | 42 | 2015 |
| Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC C Bassila, R Ghemrawi, J Flayac, DS Froese, MR Baumgartner, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1863 (1), 103-112, 2017 | 41 | 2017 |
| Molecular Genetic Characterization of 151 Mut‐Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT P Forny, AS Schnellmann, C Buerer, S Lutz, B Fowler, DS Froese, ... Human mutation 37 (8), 745-754, 2016 | 40 | 2016 |
