Publications
- Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review2019 | First Faculty of Medicine
- 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
- 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
- Lysosomal Storage Disorders - Substrat Reduction Therapy in Niemann Pick C and Gaucher DiseasePublication without faculty affiliation
- 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
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