Publications
- Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics2014 | First Faculty of Medicine, Second Faculty of Medicine
- Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families2013 | First Faculty of Medicine
- Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency2012 | First Faculty of Medicine
- The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations2010 | First Faculty of Medicine
- Disruption of OTC Promoter-enhancer Interaction in a Patient with Symptoms of Ornithine Carbamoyltransferase Deficiency2010 | 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
- Unusual presentation of Kelley-Seegmiller syndrome2008 | First Faculty of Medicine, Third Faculty of Medicine
- Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency2008 | First Faculty of Medicine
- An Unusual Cause of Renal Amyloidosis Secondary to Gout - the First Description of Familial Occurrence2006 | First Faculty of Medicine, Third Faculty of Medicine
- New polymorphic sites within ornithine transcarbamylase gene: population genetics and implications for diagnosis2003 | First Faculty of Medicine
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