Předměty
Publikace
- Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency2022 | 1. lékařská fakulta, Ústřední knihovna
- Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease2022 | 1. lékařská fakulta
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | 1. lékařská fakulta
- Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up2019 | 1. lékařská fakulta
- Conserved roles of C. elegans and human MANFs in sulfatide binding and cytoprotection2018 | 1. lékařská fakulta
- Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses2016 | 1. lékařská fakulta
- Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness2015 | 1. lékařská fakulta
- Fabry disease: renal sphingolipid distribution in the alpha-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging2015 | 1. lékařská fakulta
- Simultaneous reduction of all ORMDL proteins decreases the threshold of mast cell activation2023 | 1. lékařská fakulta, Ústřední knihovna
- Lipidomic profiling of human serum enables detection of pancreatic cancer2022 | 1. lékařská fakulta, 3. lékařská fakulta
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