- Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria2023 | First Faculty of Medicine
- Vascular presentation of cystathionine beta-synthase deficiency in adulthood2011 | First Faculty of Medicine
- Protein aggregation - a common cause of cystathionine beta-synthase deficiencyPublication without faculty affiliation
- Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency2017 | First Faculty of Medicine
- Potential pharmacological chaperones for cystathionine beta-synthase-deficient homocystinuria2018 | First Faculty of Medicine
- Clinical Picture of Homocystinuria from the Cystathionine beta-synthase Deficiency in Nineteen Czech and Slovac Patients2000 | Faculty of Medicine in Hradec Králové
- Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles2001 | First Faculty of Medicine
- Cystathionine beta-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis2021 | First Faculty of Medicine, Faculty of Mathematics and Physics
- Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria2001 | First Faculty of Medicine
- Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction2021 | First Faculty of Medicine
- Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism2020 | First Faculty of Medicine
- Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria2018 | First Faculty of Medicine
- Impaired Heme Binding and Aggregation of Mutant Cystathionine beta-synthase subunits in homocystinuria - 1?2001 | Faculty of Physical Education and Sport
- Cystathionine beta-Synthase Mutations: Effect of Mutation Topology on Folding and Activity2010 | First Faculty of Medicine
- Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment2010 | First Faculty of Medicine
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?2023 | First Faculty of Medicine
- Metabolism of sulfur compounds in homocystinurias2019 | First Faculty of Medicine
- Newborn screening for homocystinurias: Recent recommendations versus current practice2019 | First Faculty of Medicine, Faculty of Mathematics and Physics
- Epidemiology of rare diseases detected by newborn screening in the Czech Republic2019 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine