Publications
- 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
- X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations2021 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- 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
- Extremely low birthweight neonates with phenylketonuria require special dietary management2021 | First Faculty of Medicine, Central Library of Charles University
- Epidemiology of rare diseases detected by newborn screening in the Czech Republic2019 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
- Newborn screening for homocystinurias: Recent recommendations versus current practice2019 | First Faculty of Medicine, Faculty of Mathematics and Physics
- 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
- Newborn screening of inherited metabolic diseases in the Czech Republic +12018 | First Faculty of Medicine, Third Faculty of Medicine
- Carnitine supplementation alleviates lipid metabolism derangements and protects against oxidative stress in non-obese hereditary hypertriglyceridemic rats2015 | First Faculty of Medicine, Faculty of Science
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