Publications
- Disruption of OTC Promoter-enhancer Interaction in a Patient with Symptoms of Ornithine Carbamoyltransferase Deficiency2010 | First Faculty of Medicine
- Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?2006 | First Faculty of Medicine
- Mucopolysaccharidosis type I: Molecular studies of IDUA gene in Czech and Slovak populationsPublication without faculty affiliation
- Molecular analysis of idua gene in 19 Czech and Slovak patients with mucopolysaccharidosis type IPublication without faculty affiliation
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