Classes
Publications
- Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts2012 | First Faculty of Medicine
- Conformational Properties of Nine Purified Cystathionine beta-Synthase Mutants2012 | First Faculty of Medicine
- Rare Allelic Variants Determine Folate Status in an Unsupplemented European Population2012 | First Faculty of Medicine
- Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency2012 | First Faculty of Medicine
- Vascular presentation of cystathionine beta-synthase deficiency in adulthood2011 | First Faculty of Medicine
- Restoring assembly and activity of cystathionine beta-synthase mutants by ligands and chemical chaperones2011 | 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
- The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations2010 | First Faculty of Medicine
- Ancient origin of the CTH alelle carrying the c. 200C > T (p.T67I) variant in patients with cystathioninuria2010 | First Faculty of Medicine
- Cystathionine beta-Synthase Mutations: Effect of Mutation Topology on Folding and Activity2010 | First Faculty of Medicine
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