Publications
- Diagnosis and Treatment Options for Niemann-Pick Disease Type C2012 | First Faculty of Medicine, Third Faculty of Medicine
- 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
- X-linked Adrenoleukodystrophy in Twenty One Czech Patients2006 | First Faculty of Medicine
- Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population2005 | First Faculty of Medicine
- 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
- Mucopolysaccharidosis type I: Molecular studies of IDUA gene in Czech and Slovak populationsPublication without faculty affiliation
- X-linked adrenoleukodystrophy: mutation analysis in patients from fourteen Czech and Slovak familiesPublication without faculty affiliation
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