Academic staff at First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Faculty of Science, Faculty of Physical Education and Sport, Second Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
Publications
- Analytical Biochemistry Cryopreserved PBMCs can be used for the analysis of mitochondrial respiration and serve as a diagnostic tool for mitochondrial diseases2025 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Journal of Inherited Metabolic Disease Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations2025 | First Faculty of Medicine
- Exploring mitochondrial biomarkers for Friedreich's ataxia: a multifaceted approach2024 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Central Library of Charles University
- Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis2024 | First Faculty of Medicine, Second Faculty of Medicine
- A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis2024 | First Faculty of Medicine
- Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function2024 | First Faculty of Medicine
- A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis2024 | First Faculty of Medicine
- Friedreich's Ataxia: Treatment on the Horizon!2023 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Friedreich's Ataxia in the Czech Republic: New Drug and Treatment Perspectives2023 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes +12023 | First Faculty of Medicine, Faculty of Science
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