Publikace
- Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study2005 | 1. lékařská fakulta
- 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 | 1. lékařská fakulta
- Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography2000 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Monoclonal anti-lactosylceramide antibody (CDw17) - comment on the specificity and suitability for 'in situ' lipid immunohistochemical detectionPublikace bez příslušnosti k fakultě
- AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?2022 | 1. lékařská fakulta, 3. lékařská fakulta
- 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
- Disturbed angiogenesis in intrauterine growth restriction-compromised placentas at term2018 | 1. lékařská fakulta, Přírodovědecká 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
- Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases2017 | 1. lékařská fakulta
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