Publications
- Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment2019 | First Faculty of Medicine
- Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency2019 | First Faculty of Medicine
- Specific storage of glycoconjugates with terminal alpha-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B2018 | First Faculty of Medicine
- Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient2018 | First Faculty of Medicine
- N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV2017 | First Faculty of Medicine
- X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities2016 | First Faculty of Medicine
- Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin2007 | First Faculty of Medicine
- Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin2007 | Faculty of Physical Education and Sport
- Retrospective sequence analysis of the human PRNP gene from the formaldehyde-fixed paraffin-embedded tissues: Report of two cases of Creutzfeldt-Jakob disease2006 | First Faculty of Medicine, Central Library of Charles University
- Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells2024 | First Faculty of Medicine, Second Faculty of Medicine
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