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Fabry disease
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MUDr. Helena Hůlková Ph.D.
Academic staff at First Faculty of Medicine
85 publications
Publications
publication
Glycosphingolipid profile of the apical pole of human placental capillaries: The relevancy of the observed data to Fabry disease
2012 |
First Faculty of Medicine
publication
Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries
2010 |
First Faculty of Medicine
publication
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy
2008 |
First Faculty of Medicine
publication
Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients
2008 |
First Faculty of Medicine
publication
Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study
2005 |
First Faculty of Medicine
publication
Fabry disease: Study of glycolipid storage pattern by immunohistochemistry and TLC-immunostaining
Publication without faculty affiliation
publication
Effectivity of enzyme replacement therapy in Fabry desease. Studies at the cellular level
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
Hepatology
2022 |
First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové
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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