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
- Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis2012 | First Faculty of Medicine
- Mucopolysacharidosis2011 | First Faculty of Medicine
- Histopathological Diagnosis of Mitochondrial Myopathies – Indications and the Utility of Muscle Biopsy2011 | First Faculty of Medicine
- Neurotransmitter disorders in childhood and differential diagnosis2010 | First Faculty of Medicine
- Sco2 Protein Deficiency-Based Mitochondrial Encephalomyopathy with the SMA-like Picture of Neurogenic Muscle Atrophy - Case Reports2010 | First Faculty of Medicine
- Neurotransmitter disorders in childhood and differential diagnosis2010 | Publication without faculty affiliation
- 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
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