Publications
- Metabolic compendium 20062005 | First Faculty of Medicine
- Novel mutation in genes for frequent X-linked metabolic diseases (X-ALD, Fabry disease, OTC deficiency). A prevalent mutation for late onset form of OTC deficiency +1Publication 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
- 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
- Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II2018 | 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
- Selektrivní screening Fabryho, Pompeho a Gaucherovy choroby ze suchých krevních kapek u dospělých a dospívajících2018 | First Faculty of Medicine
- Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases2017 | First Faculty of Medicine
- N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV2017 | First Faculty of Medicine
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