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abnormality
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Person
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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
Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency
2022 |
First Faculty of Medicine, Central Library of Charles University
publication
Role of novel laboratory techniques in Niemann-Pick type C disease dia-gnostics
2020 |
First Faculty of Medicine
publication
Conserved roles of C. elegans and human MANFs in sulfatide binding and cytoprotection
2018 |
First Faculty of Medicine
publication
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II
2018 |
First Faculty of Medicine
publication
Specific storage of glycoconjugates with terminal alpha-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B
2018 |
First Faculty of Medicine
publication
N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV
2017 |
First Faculty of Medicine
publication
Tandem mass spectrometry of sphingolipids: Application in metabolic studies and diagnosis of inherited disorders of sphingolipid metabolism
2012 |
First Faculty of Medicine
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
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
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