Classes
Publications
- Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder2013 | First Faculty of Medicine
- Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency2012 | First Faculty of Medicine
- Warburg Effect's Manifestation in Aggressive Pheochromocytomas and Paragangliomas: Insights from a Mouse Cell Model Applied to Human Tumor Tissue2012 | First Faculty of Medicine
- Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency2012 | First Faculty of Medicine
- Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis2012 | First Faculty of Medicine
- The importance of biogenic amines metabolities determination in cerebrospinal fluid by high performance liquid chromatography in the diagnostics of pediatric neurotransmitter disorders.2011 | First Faculty of Medicine
- Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development2010 | First Faculty of Medicine
- Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b2010 | First Faculty of Medicine
- Clinical symptoms and laboratory data in 75 children with neonatal manifestation of mitochondrial disease: Proposed diagnostics algorithms2010 | First Faculty of Medicine
- Cytochrome C oxidase deficiency in childhood2009 | First Faculty of Medicine
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