Publications
- 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
- Sanfilippo Syndrome Type C: Mutation Spectrum in the Heparan Sulfate Acetyl-CoA: alpha-Glucosaminide N-Acetyltransferase (HGSNAT) Gene2009 | First Faculty of Medicine
- Mutation in TMEM76 cause mucopolysacharidosis III C syndrome2006 | First Faculty of Medicine
- Mucopolysaccharidosis type I: Molecular studies of IDUA gene in Czech and Slovak populationsPublication without faculty affiliation
- Mutation analysis of the IDUA gene in Czech and Slovak patients with mucopolysaccharidosis type IPublication 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
- Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease2022 | First Faculty of Medicine
- Advances in treatment of lysosomal storage diseases2022 | First Faculty of Medicine
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | First Faculty of Medicine
- Role of novel laboratory techniques in Niemann-Pick type C disease dia-gnostics2020 | First Faculty of Medicine
Loading network view...