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
- 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
- Clinical Features of Lysosomal Acid Lipase Deficiency2015 | First Faculty of Medicine
- Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature2014 | First Faculty of Medicine
- Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency2014 | First Faculty of Medicine
- Clinical Effect and Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients With Cholesteryl Ester Storage Disease2013 | First Faculty of Medicine
- Lysosomal storage diseases: current diagnostic and therapeutic options2013 | First Faculty of Medicine
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