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Mucopolysaccharidosis
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MUDr. Jakub Sikora Ph.D.
Academic staff at First Faculty of Medicine
1 class
64 publications
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Practical course of confocal microscopy: multiple fluorescent labeling, deconvolution, co-localization, 3D reconstruction
B81681 |
First Faculty of Medicine
Publications
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
Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient
2018 |
First Faculty of Medicine
publication
Mutation in TMEM76 cause mucopolysacharidosis III C syndrome
2006 |
First Faculty of Medicine
publication
Mutation in TMEM76 are associated with acetyl coenzyme A: Alfa-glucosaminide A acetyltransferase deficiency in mucopolysaccharidosis type IIIc patients
Publication without faculty affiliation
publication
Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells
2024 |
First Faculty of Medicine, Second Faculty of Medicine
publication
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis
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
Pitfalls of X-chromosome inactivation testing in females with Fabry disease
2022 |
First Faculty of Medicine
publication
AA amyloidóza - nejenom získaná, ale i hereditární forma je možná
2022 |
First Faculty of Medicine
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