Publications
- Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency2012 | First 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
- HGSNAT has a TATA-less promoter with multiple starts of transcription2016 | First Faculty of Medicine
- Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes2011 | First Faculty of Medicine
- Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein2009 | First Faculty of Medicine
- Unusual presentation of Kelley-Seegmiller syndrome2008 | First Faculty of Medicine, Third Faculty of Medicine
- Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency2008 | First Faculty of Medicine
- A Case of Excessive Autophagocytosis with Multiorgan Involvment and Low Clinical Penetrance2007 | First Faculty of Medicine
- Genetic and clinical features of patients with Gaucher disease in Hungary2007 | First Faculty of Medicine
- A Case of Excessive Autophagocytosis with Multiorgan Involvment and Low Clinical Penetrance2007 | Faculty of Physical Education and Sport
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