Publications
- Impact of newborn screening and early dietary management on clinical outcome of patients with long chain 3-hydroxyacyl-coa dehydrogenase deficiency and medium chain acyl-coa dehydrogenase deficiency-a retrospective nationwide study2021 | First Faculty of Medicine, Third Faculty of Medicine, Faculty of Mathematics and Physics
- Epidemiology of rare diseases detected by newborn screening in the Czech Republic2019 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
- Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates2018 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
- Results of expanded newborn screening in the Czech Republic2014 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
- Enhanced interpretation of newborn screening results without analyte cutoff values2012 | Publication without faculty affiliation
- Neonatal screening in the Czech Republic2010 | First Faculty of Medicine, Third Faculty of Medicine
- Adult Form of Glutaric Aciduria Type II - Underdiagnosed Cause of Proximal Myopathy - a Case Report2009 | Second Faculty of Medicine
- Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency2005 | First Faculty of Medicine
- První český pacient s deficitem aminoacylázy 12023 | First Faculty of Medicine
- The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases2022 | First Faculty of Medicine
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