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
- Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their correlation with Neurological Findings2018 | 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
- Pompeho nemoc2016 | First Faculty of Medicine, Second 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
- Acetyl-DL-leucine in Niemann-Pick type C A case series2015 | First Faculty of Medicine
- Effect of rapid cessation of enzyme replacement therapy: A report of 5 more cases2014 | First Faculty of Medicine
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