Publications
- Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis2013 | First Faculty of Medicine, Third Faculty of Medicine, Faculty of Science
- Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis2011 | 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
- GPD1 Deficiency - Underdiagnosed Cause of Liver Disease2021 | First Faculty of Medicine
- Anderson-Fabry disease: No histological signs of pathological accumulation in arterial and venous endothelium during pegunigalsidase alfa therapy2021 | First Faculty of Medicine
Loading network view...