Publications
- Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC12020 | First Faculty of Medicine
- Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease2018 | First Faculty of Medicine
- Genetic and clinical features of patients with Gaucher disease in Hungary2007 | First Faculty of Medicine
- Genetic and clinical features of patients with Gaucher disease in Hungary2007 | Faculty of Physical Education and Sport
- Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD2023 | First Faculty of Medicine
- A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis2022 | First Faculty of Medicine, Third Faculty of Medicine
- 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
- Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin2022 | First Faculty of Medicine
- Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations2021 | First Faculty of Medicine, Faculty of Medicine in Pilsen
- Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy Without Symptomatic Other Organ Involvement2021 | First Faculty of Medicine
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