Publikace
- Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review2019 | 1. lékařská fakulta
- 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 | 1. lékařská fakulta
- Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases2017 | 1. lékařská fakulta
- Cataplexy and sleep disorders in Niemann-Pick type C disease2015 | 1. lékařská fakulta
- Acetyl-DL-leucine in Niemann-Pick type C A case series2015 | 1. lékařská fakulta
- Lysosomal Storage Disorders - Substrat Reduction Therapy in Niemann Pick C and Gaucher DiseasePublikace bez příslušnosti k fakultě
- Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients2023 | 1. lékařská fakulta
- Deficit lyzosomální kyselé lipázy - diferenciální diagnostika a možnosti léčby v roce 20222022 | 1. lékařská fakulta
- A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C2021 | 1. lékařská fakulta
- Adultní forma Pompeho nemoci2021 | 1. lékařská fakulta
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