Classes
Publications
- Ethical issues in newborn screenig for inherited metabolic disorders2012 | First Faculty of Medicine
- Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency2012 | First Faculty of Medicine
- Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project2011 | First Faculty of Medicine
- Restoring assembly and activity of cystathionine beta-synthase mutants by ligands and chemical chaperones2011 | First Faculty of Medicine
- Neonatal screening in the Czech Republic2010 | First Faculty of Medicine, Third Faculty of Medicine
- The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations2010 | First Faculty of Medicine
- Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM2008 | 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
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