- Methylmalonic Acidemia : clinical, biochemical a molecular biological studie2006 | Faculty of Physical Education and Sport
- Methylmalonic aciduria2003 | First Faculty of Medicine
- Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia2014 | First Faculty of Medicine
- Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision2021 | First Faculty of Medicine
- Molecular analysis of Czech patients with Methylmalonic aciduriaPublication without faculty affiliation
- Prenatal diagnosis in two families with methylmalonic acidemia due to cobalamin B deficiency +1Publication without faculty affiliation
- Methylmalonic Acidemia : clinical, biochemical a molecular biological studie2006 | First Faculty of Medicine
- Methylmalonyl-CoA mutase assay as part of differential diagnostics of methylmalonic acidemiasPublication without faculty affiliation
- Molecular analysis of Czech and Slovak patients with Methylmalonic aciduria (2)Publication without faculty affiliation
- Molecular analysis of Czech and Slovak patients with Methylmalonic aciduria (1)Publication without faculty affiliation
- Methylmalonic aciduria with signs of asperger syndrome- case reportPublication without faculty affiliation
- Knock-Out of Retrovirus Receptor Gene Tva in the Chicken Confers Resistance to Avian Leukosis Virus Subgroups A and K and Affects Cobalamin (Vitamin B-12)-Dependent Level of Methylmalonic Acid2021 | First Faculty of Medicine
- Impact of age at onset and newborn screening on outcome in organic acidurias2016 | First Faculty of Medicine
- Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry2019 | First Faculty of Medicine
- Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B-12 deficiency - What have we learned?2010 | First Faculty of Medicine
- The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation2015 | First Faculty of Medicine
- The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype2015 | First Faculty of Medicine
- Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency2017 | First Faculty of Medicine
- Determination of methylmalonyl-CoA mutase activity with high-performance liquid chromatographyPublication without faculty affiliation
- Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice2021 | First Faculty of Medicine
- Determination of the spectrum of low molecular mass organic acids in urine by capillary electrophoresis with contactless conductivity and ultraviolet photometric detection - An efficient tool for monitoring of inborn metabolic disorders2011 | Faculty of Science
- Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders2012 | First Faculty of Medicine
- Megaloblastic Anemia 1 (Imerslund-Gräsbeck)2003 | Second Faculty of Medicine
- Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines2015 | First Faculty of Medicine
- Newborn screening for homocystinurias: Recent recommendations versus current practice2019 | First Faculty of Medicine, Faculty of Mathematics and Physics
- Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study2022 | First Faculty of Medicine