Publications
- Late-onset Tay-Sachs Disease Can Mimic Spinal Muscular Atrophy Type III - Two Case Reports2013 | First Faculty of Medicine
- The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations2010 | First Faculty of Medicine
- Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from alpha-mannosidosis patients2009 | First Faculty of Medicine
- Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process2009 | First Faculty of Medicine
- Disorder of Growth and Development in a Boy with X-bound Ichthyosis, Protracted Delivery and Low Level of Estriol in the Mother during Pregnancy2009 | First 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
- Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients2008 | First Faculty of Medicine
- Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study2005 | First Faculty of Medicine, Faculty of Physical Education and Sport
- BioMed Central Cell Biology2005 | First Faculty of Medicine
- A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation2001 | First Faculty of Medicine
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