Publications
- Specific storage of glycoconjugates with terminal alpha-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B2018 | First Faculty of Medicine
- X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female2016 | First Faculty of Medicine
- Fabry disease: renal sphingolipid distribution in the alpha-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging2015 | First Faculty of Medicine
- A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population +12008 | First Faculty of Medicine
- Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients2008 | First Faculty of Medicine
- Natural history of the respiratory involvement in Anderson-Fabry disease2007 | First Faculty of Medicine
- IFabry disease - clinical manifestations and genetics. What do the effects seen in females with Fabry disease depend upon?2006 | First Faculty of Medicine
- Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase A gene mutation2005 | First Faculty of Medicine
- Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population2005 | First Faculty of Medicine
- Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases2002 | First Faculty of Medicine
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