Publications
- Mutations in ANTXR1 Cause GAPO Syndrome2013 | First Faculty of Medicine
- Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing2013 | 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
- Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients2008 | First Faculty of Medicine
- Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells2024 | First Faculty of Medicine, Second Faculty of Medicine
- Hepatology2022 | First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové
- 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
- Autosomal dominant tubulointerstitial kidney disease: A review2022 | First Faculty of Medicine
- Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient2021 | First Faculty of Medicine, Third Faculty of Medicine
- Bilateral Amyloidosis of Three Eyelids. A Case Report2021 | Third Faculty of Medicine, Central Library of Charles University
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