Publications
- Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment2019 | First Faculty of Medicine
- Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease2016 | First Faculty of Medicine
- Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.2010 | First Faculty of Medicine
- Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment2010 | 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
- Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients2008 | Publication without faculty affiliation
- Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells2024 | First Faculty of Medicine, Second Faculty of Medicine
- A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis2022 | First Faculty of Medicine, Third Faculty of Medicine
- Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency2022 | First Faculty of Medicine, Central Library of Charles University
- 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
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