Publications
- Diagnosis and Treatment Options for Niemann-Pick Disease Type C2012 | First Faculty of Medicine, Third Faculty of Medicine
- Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis2011 | 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
- Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure2009 | First Faculty of Medicine
- Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene2008 | 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
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