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MUDr. Helena Hůlková Ph.D.
Academic staff at First Faculty of Medicine
85 publications
Publications
publication
Mutations in ANTXR1 Cause GAPO Syndrome
2013 |
First Faculty of Medicine
publication
Rapid Isolation of Lysosomal Membranes from Cultured Cells
2013 |
First Faculty of Medicine
publication
Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study
2005 |
First Faculty of Medicine
publication
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation
2001 |
First Faculty of Medicine
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
publication
Autosomal dominant tubulointerstitial kidney disease: A review
2022 |
First Faculty of Medicine
publication
Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient
2021 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Bilateral Amyloidosis of Three Eyelids. A Case Report
2021 |
Third Faculty of Medicine, Central Library of Charles University
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