Classes
Publications
- Simultaneous reduction of all ORMDL proteins decreases the threshold of mast cell activation2023 | First Faculty of Medicine, Central Library of Charles University
- ORMDL2 Deficiency Potentiates the ORMDL3-Dependent Changes in Mast Cell Signaling2021 | First Faculty of Medicine
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | First Faculty of Medicine
- A new role for dolichol isoform profile in the diagnostics of CDG disorders2020 | First Faculty of Medicine
- Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up2019 | First Faculty of Medicine
- Conserved roles of C. elegans and human MANFs in sulfatide binding and cytoprotection2018 | 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
- N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV2017 | First Faculty of Medicine
- Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness2015 | First Faculty of Medicine
- Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations2009 | First Faculty of Medicine
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