Publications
- 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 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
- Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria2014 | First Faculty of Medicine
- Enhanced interpretation of newborn screening results without analyte cutoff values2012 | Publication without faculty affiliation
- Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project2011 | First 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
- Tandem mass spectrometry of globotriaosylceramide: quantification in plasma and urine for diagnosis and therapy monitoring in Fabry disease +12007 | First Faculty of Medicine
- Newborn screening of inherited metabolic disorders by tandem mass spectrometry2005 | First Faculty of Medicine
- Tandem mass spectrometry in newborn screening of hereditary metabolic diseases2005 | Faculty of Physical Education and Sport
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