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leigh-syndrome
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MUDr. Helena Hůlková Ph.D.
Academic staff at First Faculty of Medicine
85 publications
Publications
publication
Loss of function of Sco1 and its interaction with cytochrome c oxidase
2009 |
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
publication
Anderson-Fabry disease: No histological signs of pathological accumulation in arterial and venous endothelium during pegunigalsidase alfa therapy
2021 |
First Faculty of Medicine
publication
NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease
2020 |
First Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Pilsen
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