- Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data2015 | 1. lékařská fakulta
- Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency2016 | 1. lékařská fakulta
- Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency2022 | 1. lékařská fakulta
- Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism2020 | 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
- Thioethers as markers of hydrogen sulfide production in homocystinurias2016 | 1. lékařská fakulta
- Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria2014 | 1. lékařská fakulta
- Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction2021 | 1. lékařská fakulta
- Metabolism of sulfur compounds in homocystinurias2019 | 1. lékařská fakulta