- Clinical picture of the homocystinuria.2000 | Faculty of Physical Education and Sport
- Homocystinuria and Q-heart attack2003 | First Faculty of Medicine
- Atypical homocystinuria detected after myocardial infarct2001 | First Faculty of Medicine
- Clinical Picture of Homocystinuria from the Cystathione ß-synthase Deficiency in Nineteen Czech and Slovak Patients2000 | First Faculty of Medicine
- A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment2010 | First Faculty of Medicine
- Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C > T (p.R369C) in the Cystathionine Beta-Synthase Gene2009 | 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
- Identification and Functional Analysis of Two Novel Mutations in the CBS Gene in Polish Patients with Homocystinuria2004 | First Faculty of Medicine
- A key leader in homocystinuria research: Jan P. Kraus (1942-2019)2019 | First Faculty of Medicine
- The Deep Intronic c.903+469T > C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cbIE Type of Homocystinuria2010 | First Faculty of Medicine
- Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria2001 | First Faculty of Medicine
- Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria2023 | First Faculty of Medicine
- Enzymatic diagnosis of homocystinuria by determination of cystathionine-beta-synthase activity in plasma using LC-MS/MS2015 | First Faculty of Medicine
- Homocystinurie - informační brožurka pro pacienty a jejich rodinyPublication without faculty affiliation
- Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion2007 | First Faculty of Medicine
- Inborn errors of amino acid, organic acid metabolism and disorders of the urea cycle2022 | First Faculty of Medicine
- Metabolism of sulfur compounds in homocystinurias2019 | First Faculty of Medicine
- Cystathionine (-Synthase Mutations in Homocystinuria. Mutation update.1999 | Faculty of Physical Education and Sport
- Cystathionine beta-Synthase Mutations: Effect of Mutation Topology on Folding and Activity2010 | First Faculty of Medicine
- Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223+37 de1991997 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Molecular and functional studies in patients with the cblE type of homocystinuriaPublication without faculty affiliation
- Thioethers as markers of hydrogen sulfide production in homocystinurias2016 | First Faculty of Medicine
- Homocystinuria due to cystathionine B-synthase deficiency: Novel biochemical findings and treatment efficacy2003 | First Faculty of Medicine
- Homocystinuria due to cystathionine B-synthase deficiency: Novel biochemical findings and treatment efficacy2003 | Faculty of Physical Education and Sport
- Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction2021 | First Faculty of Medicine
- Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria2004 | Faculty of Physical Education and Sport
- Identification and functional analysis of two novel mutations in CBS gene in Polish patients with homocystinuria2004 | First Faculty of Medicine
- Identification and functional analysis of two novel mutations in CBS gene in Polish patients with homocystinuria2004 | Faculty of Physical Education and Sport
- Newborn screening for homocystinurias: Recent recommendations versus current practice2019 | First Faculty of Medicine, Faculty of Mathematics and Physics
- 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