Classes
Publications
- Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop2018 | First Faculty of Medicine
- Activity of phosphomannomutase 2 in patients with suspected congenital disorder of glycosylation2016 | First Faculty of Medicine
- Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency2012 | First Faculty of Medicine
- Quality of life of persons taking care of children with hereditary metabolic disease2012 | First Faculty of Medicine
- High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency2012 | First Faculty of Medicine
- Mucopolysaccharidosis I – clinical manifestations in 24 children from the Czech Republic and Slovakia2011 | First Faculty of Medicine
- Placental tissue as model for pilot study focused on RNA analysis from human foetal tissue2011 | First Faculty of Medicine
- Two Patients with Clinically Distinct Manifestation of Pyruvate Dehydrogenase Deficiency Due to Mutations in PDHA1 Gene2011 | First Faculty of Medicine
- Vascular presentation of cystathionine beta-synthase deficiency in adulthood2011 | 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
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