Publications
- Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases2002 | First Faculty of Medicine
- Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease2022 | First Faculty of Medicine
- A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia2020 | First Faculty of Medicine, Faculty of Science, Central Library of Charles University, Second Faculty of Medicine
- IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing2019 | First Faculty of Medicine
- Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II2018 | First Faculty of Medicine
- 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
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