Classes
Publications
- Different laboratory and muscle biopsy findings in a family with an m.8851T > C mutation in the mitochondrial MTATP6 gene2013 | First Faculty of Medicine, Second Faculty of Medicine
- Novel Mutations in the TAZ Gene in Patients with Barth Syndrome2013 | First Faculty of Medicine
- RFT1-CDG in adult siblings with novel mutations2012 | 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
- Vascular presentation of cystathionine beta-synthase deficiency in adulthood2011 | 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 | Faculty of Science, Faculty of Physical Education and Sport, First Faculty of Medicine, 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
- Sco2 Protein Deficiency-Based Mitochondrial Encephalomyopathy with the SMA-like Picture of Neurogenic Muscle Atrophy - Case Reports2010 | First Faculty of Medicine
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