Publikace
- Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines2021 | 1. lékařská fakulta
- POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene2019 | 1. lékařská fakulta, Ústřední knihovna
- Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II2017 | 1. lékařská fakulta
- Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia2022 | 1. lékařská fakulta
- Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients2021 | 1. lékařská fakulta
- Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry2021 | 1. lékařská fakulta
- Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies2020 | 1. lékařská fakulta
- Peripapillary microcirculation in Leber hereditary optic neuropathy2019 | 1. lékařská fakulta
- Leberova hereditární neuropatie optiku2017 | 1. lékařská fakulta
- Enzymová substituční terapie pacientů s mukopolysacharidózami2016 | 1. lékařská fakulta
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