Classes
Publications
- Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI2011 | First Faculty of Medicine
- Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries2010 | 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
- Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis2010 | 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
- 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
- Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma2014 | First Faculty of Medicine
- Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis2013 | First Faculty of Medicine, Third Faculty of Medicine
- Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens2012 | 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
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