Publications
- Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency2018 | First Faculty of Medicine, Central Library of Charles University
- Selektrivní screening Fabryho, Pompeho a Gaucherovy choroby ze suchých krevních kapek u dospělých a dospívajících2018 | First Faculty of Medicine
- Pompeho nemoc2016 | First Faculty of Medicine, Second Faculty of Medicine
- Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS)2014 | First Faculty of Medicine
- Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy2013 | First Faculty of Medicine
- Rapid Isolation of Lysosomal Membranes from Cultured Cells2013 | First Faculty of Medicine
- Glycosphingolipid profile of the apical pole of human placental capillaries: The relevancy of the observed data to Fabry disease2012 | First Faculty of Medicine
- Mucopolysaccharidosis I – clinical manifestations in 24 children from the Czech Republic and Slovakia2011 | First Faculty of Medicine
- Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans2010 | First Faculty of Medicine
Loading network view...