Publications
- Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease2022 | First Faculty of Medicine
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | First Faculty of Medicine
- Specific storage of glycoconjugates with terminal alpha-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B2018 | First Faculty of Medicine
- Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses2016 | 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
- Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients2008 | First Faculty of Medicine
- Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation2007 | First Faculty of Medicine
- Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study2005 | First Faculty of Medicine
- Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases2002 | 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
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