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mitochondrial disorder
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Ing. Markéta Tesařová Ph.D.
Academic staff at First Faculty of Medicine
194 publications
Publications
publication
High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency
2012 |
First Faculty of Medicine
publication
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis
2012 |
First Faculty of Medicine
publication
Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures
2011 |
Faculty of Science, First Faculty of Medicine
publication
Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures
2011 |
First Faculty of Medicine
publication
Myoclonic Epilepsy and Deafness in Siblings with the 7512T>C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports
2010 |
Faculty of Science, Faculty of Physical Education and Sport, First Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Elevated lactate is a reliable marker pointing to mitochondrial disorders even in children after brief seizures.
2010 |
Faculty of Science, Faculty of Physical Education and Sport, First Faculty of Medicine
publication
Myoclonic Epilepsy and Deafness in Siblings with the 7512T > C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports
2010 |
First Faculty of Medicine
publication
Clinical symptoms and laboratory data in 75 children with neonatal manifestation of mitochondrial disease: Proposed diagnostics algorithms
2010 |
First Faculty of Medicine
publication
Changes in heteroplasmy of mtDNA mutations A3234G and A8344G in fibroblasts during cultivation with ethidium bromide
Publication without faculty affiliation
publication
Spectrophotometric analyses of respiratory chain complexes in isolated muscle mitochondria and platelets in patients with mitochondrial disorders
Publication without faculty affiliation
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