Publications
- Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data2015 | First Faculty of Medicine
- 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
- Mucopolysaccharidoses - clinical manifestations, diagnostics and therapy2013 | First Faculty of Medicine
- Diagnosis and Treatment Options for Niemann-Pick Disease Type C2012 | First Faculty of Medicine, Third 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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