Publications
- Mucopolysaccharidosis I – clinical manifestations in 24 children from the Czech Republic and Slovakia2011 | 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
- 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
- A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population +12008 | First Faculty of Medicine
- Globoid Cell Leukodystrophy (Krabbe`s Disease). A series of Czech patients and a survey of current views of biology and differential diagnosis2006 | 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
- Mucopolysacharidosis type I: mutation analysis and polymorphisms in the IDUA gene in Czech and Slovak populationPublication without faculty affiliation
- Mutation analysis in Czech and Slovak patients with mucopolysacharidosis type II: Six novel mutations in IDS genePublication without faculty affiliation
- Acid sphingomyelinase deficiency: molecular studies of a series of 25 Czech and Slovak patients with prevalence of intermediatr phenotypePublication without faculty affiliation
- Mucopolysaccharidosis type I: Molecular studies of IDUA gene in Czech and Slovak populationsPublication without faculty affiliation
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