Publications
- New polymorphic sites within ornithine transcarbamylase gene: population genetics and implications for diagnosis2003 | First Faculty of Medicine
- Mutation analysis in families with X-linked adrenoleukodystrophy (X-ALD) and ornithinkarbamoyltransferase (OTC) deficiencyPublication without faculty affiliation
- Tissue - Specific patterns of Oxphos deficiencies as a result of mitochondrial tRNA mutationsPublication without faculty affiliation
- The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues2008 | First Faculty of Medicine
- Mucopolysacharidosis type I: mutation analysis and polymorphisms in the IDUA gene in Czech and Slovak populationPublication without faculty affiliation
- Maternal inherited Leigh syndrom due to mutation 8363G:A in mtDNAPublication without faculty affiliation
- Impact of the mtDNA mutation G8363A in MT-TK gene affected familyPublication without faculty affiliation
- Characteristic of the point mutation G8363A tRNA (Lys) in the mitochondrial DNA morphology and biochemistry a levelPublication without faculty affiliation
- The encephalopathy with hypertrophic cardiomyopathy and mutations in mitochondrial DNAPublication without faculty affiliation
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