Publikace
- Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy2013 | 1. lékařská fakulta
- Glycosphingolipid profile of the apical pole of human placental capillaries: The relevancy of the observed data to Fabry disease2012 | 1. lékařská fakulta
- Bioinformatické a biochemické studie ukazují na AAGR-1 jako na ortolog lidské kyselé alfa glukosidasy u Caenorhabditis elegans2010 | 1. lékařská fakulta
- A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate2005 | 1. lékařská fakulta
- Monoclonal anti-lactosylceramide antibody (CDw17) - comment on the specificity and suitability for 'in situ' lipid immunohistochemical detectionPublikace bez příslušnosti k fakultě
- Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease2022 | 1. lékařská fakulta
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | 1. lékařská fakulta
- Význam nových laboratorních technik v dia-gnostice Niemann-Pickovy choroby typu C2020 | 1. lékařská fakulta
- Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II2018 | 1. lékařská fakulta
- Specific storage of glycoconjugates with terminal alpha-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B2018 | 1. lékařská fakulta
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