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Inherited metabolic disorders
Person
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Person
Publication
Programmes
RNDr. Ladislav Kuchař Ph.D.
Academic staff at Faculty of Science, First Faculty of Medicine
2 classes
26 publications
Classes
class
Analysis of biomarkers with application in inherited metabolic disorders: a practical course of mass spectrometry
B03577 |
First Faculty of Medicine
class
Glycosphingolipids
MC250P37 |
Faculty of Science
Publications
publication
Simultaneous reduction of all ORMDL proteins decreases the threshold of mast cell activation
2023 |
First Faculty of Medicine, Central Library of Charles University
publication
Lipidomic profiling of human serum enables detection of pancreatic cancer
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency
2022 |
First Faculty of Medicine, Central Library of Charles University
publication
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
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
Crosstalk between ORMDL3, serine palmitoyltransferase, and 5-lipoxygenase in the sphingolipid and eicosanoid metabolic pathways
2021 |
First Faculty of Medicine, Second Faculty of Medicine
publication
ORMDL2 Deficiency Potentiates the ORMDL3-Dependent Changes in Mast Cell Signaling
2021 |
First Faculty of Medicine
publication
Lipidomic characterization of exosomes isolated from human plasma using various mass spectrometry techniques
2020 |
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
A new role for dolichol isoform profile in the diagnostics of CDG disorders
2020 |
First Faculty of Medicine
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