Classes
Publications
- Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency2012 | First Faculty of Medicine
- Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency2011 | First Faculty of Medicine
- Cross-Talk between the Catalytic Core and the Regulatory Domain in Cystathionine beta-Synthase: Study by Differential Covalent Labeling and Computational Modeling2010 | 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
- 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
- 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
- Determination of S-Adenosylmethionine and S-Adenosylhomocysteine by LC-MS/MS and evaluation of their stability in mice tissues2009 | First Faculty of Medicine
- cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression2005 | First Faculty of Medicine
- Genetic variants of homocysteine metabolizing enzymes and the risk of coronary artery disease2003 | First Faculty of Medicine, Third Faculty of Medicine
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?2023 | First Faculty of Medicine
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