Publications
- POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene2019 | First Faculty of Medicine, Central Library of Charles University
- Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia2022 | First Faculty of Medicine
- Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients2021 | First Faculty of Medicine
- Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry2021 | First Faculty of Medicine
- Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines2021 | First Faculty of Medicine
- Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies2020 | First Faculty of Medicine
- Peripapillary microcirculation in Leber hereditary optic neuropathy2019 | First Faculty of Medicine
- Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II2017 | First Faculty of Medicine
- Leber hereditary optic neuropathy2017 | First Faculty of Medicine
- Enzyme replacement therapy in patients with mucopolysaccharidoses2016 | First Faculty of Medicine
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