Publications
- Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis2012 | First Faculty of Medicine
- Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures2011 | Faculty of Science, First Faculty of Medicine
- Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures2011 | First Faculty of Medicine
- 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
- Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study2024 | First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine, Faculty of Medicine in Pilsen
- Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment2023 | First Faculty of Medicine, Faculty of Mathematics and Physics
- Late diagnosis of mucopolysaccharidosis type I in a girl with hand contractures2023 | First Faculty of Medicine
- A random finding of splenomegaly as the main symptom leading to the diagnosis of Niemann‑Pick type B disease in an adult patient2023 | First Faculty of Medicine
- Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene2023 | First Faculty of Medicine
- Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease2023 | First Faculty of Medicine
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