Publications
- Rapid Isolation of Lysosomal Membranes from Cultured Cells2013 | First Faculty of Medicine
- Glycosphingolipid profile of the apical pole of human placental capillaries: The relevancy of the observed data to Fabry disease2012 | First Faculty of Medicine
- Tandem mass spectrometry of sphingolipids: Application in metabolic studies and diagnosis of inherited disorders of sphingolipid metabolism2012 | First Faculty of Medicine
- GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid beta-Galactosidase2009 | First Faculty of Medicine
- Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process2009 | First Faculty of Medicine
- Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients2008 | First Faculty of Medicine
- BioMed Central Cell Biology2005 | First Faculty of Medicine
- Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study2005 | First Faculty of Medicine
- A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation2001 | First Faculty of Medicine
- Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease2022 | First Faculty of Medicine
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