Classes
Publications
- Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop2018 | First Faculty of Medicine
- Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency2012 | First Faculty of Medicine
- RFT1-CDG in adult siblings with novel mutations2012 | First Faculty of Medicine
- Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure2012 | First Faculty of Medicine
- Mucopolysacharidosis2011 | First Faculty of Medicine
- Mucopolysaccharidosis I – clinical manifestations in 24 children from the Czech Republic and Slovakia2011 | 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
- Two Patients with Clinically Distinct Manifestation of Pyruvate Dehydrogenase Deficiency Due to Mutations in PDHA1 Gene2011 | First Faculty of Medicine
- Myoclonic Epilepsy and Deafness in Siblings with the 7512T>C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports2010 | First Faculty of Medicine, Faculty of Science, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové
- Myoclonic Epilepsy and Deafness in Siblings with the 7512T > C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports2010 | First Faculty of Medicine
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