- Diagnosis of Niemann-Pick type C (NPC) - Decisions at the cell level. Pathologist's report2010 | First Faculty of Medicine
- Consensus clinical management guidelines for Niemann-Pick disease type C2018 | First Faculty of Medicine
- Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation2023 | First Faculty of Medicine
- Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease2016 | First Faculty of Medicine
- N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV2017 | First Faculty of Medicine
