Publications
- 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
- 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
- Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation2007 | First Faculty of Medicine
- 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
- Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases2017 | First Faculty of Medicine
- Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses2016 | First Faculty of Medicine
Loading network view...