- Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.1997 | Fakulta tělesné výchovy a sportu
- Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients < 4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial2017 | Ústřední knihovna
- Hyperphenylalaninemia in the Czech Republic: Genotype-phenotype correlations and in silico analysis of novel missense mutations2013 | 3. lékařská fakulta
- Porucha vývoje kostní hmoty - potenciální komplikace fenylketonurie2011 | Lékařská fakulta v Hradci Králové
- Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate2015 | 1. lékařská fakulta
- Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial2021 | 3. lékařská fakulta