Publications
- Rapid Isolation of Lysosomal Membranes from Cultured Cells2013 | First Faculty of Medicine
- Diagnosis and Treatment Options for Niemann-Pick Disease Type C2012 | First Faculty of Medicine, Third Faculty of Medicine
- Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans2010 | First Faculty of Medicine
- Biochemistry of Fabry Disease2010 | First Faculty of Medicine
- Sanfilippo Syndrome Type C: Mutation Spectrum in the Heparan Sulfate Acetyl-CoA: alpha-Glucosaminide N-Acetyltransferase (HGSNAT) Gene2009 | First Faculty of Medicine
- Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient2005 | 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
- 1bp deletion in saposin B domain of the prosaposin gene leads to nonsense-mediated mRNA decay and prosaposin deficiencyPublication without faculty affiliation
- Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease2022 | First Faculty of Medicine
- Advances in treatment of lysosomal storage diseases2022 | First Faculty of Medicine
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