Publications
- Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases2017 | First Faculty of Medicine
- Cataplexy and sleep disorders in Niemann-Pick type C disease2015 | First Faculty of Medicine
- Acetyl-DL-leucine in Niemann-Pick type C A case series2015 | First Faculty of Medicine
- Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients2023 | First Faculty of Medicine
- Lysosomal acid lipase deficiency - differential diagnosis and treatment options in 20222022 | First Faculty of Medicine
- A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C2021 | First Faculty of Medicine
- The late-onset form of Pompe disease2021 | First Faculty of Medicine
- Atypical course of Gaucher disease2021 | First Faculty of Medicine
- Otorhinolaryngological manifestations in 61 patients with mucopolysaccharidosis2020 | First Faculty of Medicine, Second Faculty of Medicine
- Sebelipase alfa for lysosomal acid lipase deficiency: 5-year treatment experience from a phase 2 open-label extension study2020 | First Faculty of Medicine
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