Classes
Publications
- 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
- 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
- Ectopia leutis and marphanoid phenotype2006 | First Faculty of Medicine
- CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene2003 | First Faculty of Medicine
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?2023 | First Faculty of Medicine
- Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria2023 | First Faculty of Medicine
- Newborn Screening in a Pandemic-Lessons Learned2023 | First Faculty of Medicine
- The Associations of Habitual Intake of Sulfur Amino Acids, Proteins and Diet Quality with Plasma Sulfur Amino Acid Concentrations: The Maastricht Study2023 | First Faculty of Medicine
- Laboratory newborn screening2022 | First Faculty of Medicine, Third Faculty of Medicine
Loading network view...