Publications
- Rapid Isolation of Lysosomal Membranes from Cultured Cells2013 | First Faculty of Medicine
- Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes2011 | First Faculty of Medicine
- Unusual presentation of Kelley-Seegmiller syndrome2008 | First Faculty of Medicine, Third Faculty of Medicine
- Unusual cause of stroke: CADASIL with novel mutation in Czech patient2006 | First Faculty of Medicine, Third Faculty of Medicine
- BioMed Central Cell Biology2005 | 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
- Advances in treatment of lysosomal storage diseases2022 | First Faculty of Medicine
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | First Faculty of Medicine
- Role of novel laboratory techniques in Niemann-Pick type C disease dia-gnostics2020 | First Faculty of Medicine
Loading network view...