ℹ️
🇬🇧
Search
Search for people relevant for "storage disease"
storage disease
Person
Class
Person
Publication
Programmes
Export current view
MUDr. Helena Hůlková Ph.D.
Academic staff at First Faculty of Medicine
85 publications
Publications
publication
Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease
2013 |
First Faculty of Medicine
publication
Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens
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
Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient
2005 |
First Faculty of Medicine
publication
Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study
2005 |
First Faculty of Medicine
publication
1bp deletion in saposin B domain of the prosaposin gene leads to nonsense-mediated mRNA decay and prosaposin deficiency
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
publication
Autosomal dominant tubulointerstitial kidney disease: A review
2022 |
First Faculty of Medicine
Load more publications (75)
Loading network view...