| Date | Topic | Author | Title | Link | |
| 2023-Aug | Dental | Chapman, K., et al | Dental complications in Homocystinurias | Article | |
| 2022-Apr | Newborn Screening | Yverneau, M., et al | Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency | Article | |
| 2020-Aug | Late-Onset | Marelli, C., et al | Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency | Article | |
| 2020-Apr | Basic Science | Nagarajan, H., et al | Mutational landscape screening of methylene tetrahydrofolate reductase to predict homocystinuria associated variants: An integrative computational approach | Article | |
| 2019-July | Basic Science | Hoss, G., et al | Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they have in common? | Article | |
| 2019-Feb | Dx, Treatment | Heumer, M., et al | Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry | Article | |
| 2016-Feb | Newborn Screening | Wong, D., et al | Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening | Article | |
| 2015-May | Basic Science | Heumer, M., et al | Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency | Article | |
| 2012-Nov | Treatement | Schiff, M., Blom, H., et al | Treatment of inherited homocystinurias | Article | |
| 2001-Mar | Mouse Model | Chen, Z., et al | Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathy and aortic lipid desposition | Article | |
