Publications
- Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses2016 | First Faculty of Medicine
- Tandem mass spectrometry of sphingolipids: Application in metabolic studies and diagnosis of inherited disorders of sphingolipid metabolism2012 | First Faculty of Medicine
- Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from alpha-mannosidosis patients2009 | First Faculty of Medicine
- Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study2005 | First Faculty of Medicine
- Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography2000 | First Faculty of Medicine, Faculty of Physical Education and Sport
- AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?2022 | First Faculty of Medicine, Third 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
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | First Faculty of Medicine
- Disturbed angiogenesis in intrauterine growth restriction-compromised placentas at term2018 | First Faculty of Medicine, Faculty of Science
- 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
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