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MUDr. Helena Hůlková Ph.D.
Academic staff at First Faculty of Medicine
85 publications
Publications
publication
Diagnosis and Treatment Options for Niemann-Pick Disease Type C
2012 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
2011 |
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
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
publication
GPD1 Deficiency - Underdiagnosed Cause of Liver Disease
2021 |
First Faculty of Medicine
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