- Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency2021 | 1. lékařská fakulta
- Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency2022 | 1. lékařská fakulta
- Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency2017 | 1. lékařská fakulta
- Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency2016 | 1. lékařská fakulta
- Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry2019 | 1. lékařská fakulta
- Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients2015 | 1. lékařská fakulta
- Shifting landscapes of human MTHFR missense-variant effects2021 | 1. lékařská fakulta
- Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines2015 | 1. lékařská fakulta
- Postauthorization safety study of betaine anhydrous2022 | 1. lékařská fakulta
- Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency2016 | 1. lékařská fakulta