Classes
Publications
- Novel Mutations in the TAZ Gene in Patients with Barth Syndrome2013 | First Faculty of Medicine
- Quality of life of persons taking care of children with hereditary metabolic disease2012 | 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
- Mucopolysaccharidosis I – clinical manifestations in 24 children from the Czech Republic and Slovakia2011 | 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
- Neurotransmitter disorders in childhood and differential diagnosis2010 | 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
Loading network view...