Publications
- 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
- Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients2004 | First Faculty of Medicine
- Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients2004 | 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
- Mucopolysaccharidosis type I: Molecular studies of IDUA gene in Czech and Slovak populationsPublication without faculty affiliation
- Mucopolysaccharidosis type I in Czech and Slovak populations: identification of three novel mutations in the IDUA gene, characterization of haplotypes in mutant and kontrol allelesPublication without faculty affiliation
- Metachromatic leukodystrophy: biochemical and molecular studies in Czech and Slovak patientsPublication without faculty affiliation
- Molecular analysis of idua gene in 19 Czech and Slovak patients with mucopolysaccharidosis type IPublication without faculty affiliation
- Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations2009 | First Faculty of Medicine
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