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Prediagnostics
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RNDr. Jana Ledvinová CSc.
Academic staff at First Faculty of Medicine
98 publications
Publications
publication
Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy
2013 |
First Faculty of Medicine
publication
Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease
2022 |
First Faculty of Medicine
publication
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
2020 |
First Faculty of Medicine
publication
Role of novel laboratory techniques in Niemann-Pick type C disease dia-gnostics
2020 |
First Faculty of Medicine
publication
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II
2018 |
First Faculty of Medicine
publication
Specific storage of glycoconjugates with terminal alpha-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B
2018 |
First Faculty of Medicine
publication
Selektrivní screening Fabryho, Pompeho a Gaucherovy choroby ze suchých krevních kapek u dospělých a dospívajících
2018 |
First Faculty of Medicine
publication
Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases
2017 |
First Faculty of Medicine
publication
N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV
2017 |
First Faculty of Medicine
publication
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female
2016 |
First Faculty of Medicine
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