Publications
- The coincidence of IgA nephropathy and Fabry disease2013 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Mucopolysaccharidosis I – clinical manifestations in 24 children from the Czech Republic and Slovakia2011 | First Faculty of Medicine
- Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from alpha-mannosidosis patients2009 | First Faculty of Medicine
- Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein2009 | 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
- Prosaposin deficiency due to 1BP deletion in SAP B domain: The evidence for functional SAP A deficiency due to nonsense-mediated decayPublication without faculty affiliation
- Late diagnosis of mucopolysaccharidosis type I in a girl with hand contractures2023 | First Faculty of Medicine
- Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients2023 | First Faculty of Medicine
- AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?2022 | First Faculty of Medicine, Third Faculty of Medicine
- Pitfalls of X-chromosome inactivation testing in females with Fabry disease2022 | First Faculty of Medicine
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