Publications
- Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene2004 | First Faculty of Medicine
- New polymorphic sites within ornithine transcarbamylase gene: population genetics and implications for diagnosis2003 | First Faculty of Medicine
- 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
- NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease2020 | First Faculty of Medicine, Faculty of Medicine in Pilsen, Third Faculty of Medicine
- Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II2017 | First Faculty of Medicine
- Rhabdomyolysis as the manifestation of in born energy metabolism error in 2-year-old boy2014 | Publication without faculty affiliation
- Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B-12 deficiency - What have we learned?2010 | First Faculty of Medicine
- Vitamin B 12 deficiency in breastfed infants-treatable cause of psychomotor retardation: etiology, clinical signs and laboratory findings2008 | First Faculty of Medicine
- Methylmalonic Acidemia : clinical, biochemical a molecular biological studie2006 | First Faculty of Medicine
- Methylmalonic Acidemia : clinical, biochemical a molecular biological studie2006 | Faculty of Physical Education and Sport
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