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
- 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
- Mutation in TMEM76 cause mucopolysacharidosis III C syndrome2006 | 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
- Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase A gene mutation2005 | First Faculty of Medicine
- Molecular pathology of NEU1 gene in sialidosis2003 | 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
- Mucopolysacharidosis type I: mutation analysis and polymorphisms in the IDUA gene in Czech and Slovak populationPublication without faculty affiliation
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