- Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation2016 | Lékařská fakulta v Plzni
- Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial2019 | 1. lékařská fakulta
- Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial2015 | 1. lékařská fakulta
- Fabry disease revisited: Management and treatment recommendations for adult patients2018 | 1. lékařská fakulta
- Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease2022 | 1. lékařská fakulta
- Vzácný případ DiGeorgeova syndromu s anomáliemi končetin: přínos vyšetření metodou SNP microarrayí?2015 | 2. lékařská fakulta
- A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C > A, Ala242Glu) at the 'Jimpy(msd) codon' in the PLP gene2002 | 2. lékařská fakulta