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GLA
Person
Class
Person
Publication
Programmes
RNDr. Asfaw Befekadu CSc.
Academic staff at First Faculty of Medicine
1 class
30 publications
Class
class
Practical course in cell cultures withapplication for study of inherited metabolic disorders
B02187 |
First Faculty of Medicine
Publications
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
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
2020 |
First Faculty of Medicine
publication
Disturbed angiogenesis in intrauterine growth restriction-compromised placentas at term
2018 |
First Faculty of Medicine, Faculty of Science
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
Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases
2017 |
First Faculty of Medicine
publication
Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses
2016 |
First Faculty of Medicine
publication
Fabry disease: renal sphingolipid distribution in the alpha-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging
2015 |
First Faculty of Medicine
publication
Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy
2013 |
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
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