Publications
- Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review2019 | First Faculty of Medicine
- Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases2017 | First Faculty of Medicine
- Gaucher disease and lysosomal disorders - current options in evaluation and therapy2016 | First Faculty of Medicine
- Enzyme replacement therapy in lysosomal storage diseases2015 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Cataplexy and sleep disorders in Niemann-Pick type C disease2015 | First Faculty of Medicine
- Lysosomal storage diseases: current diagnostic and therapeutic options2013 | First Faculty of Medicine
- Lysosomal storage diseases: current diagnostic and therapeutic options (continued)2013 | 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
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