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
- 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
- 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
- Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations2009 | First Faculty of Medicine
Loading network view...
