Helena Hůlková

Charles University — Czech Republic

Medicine · Health Sciences

28h-index3.1kcitations79works4.52yr avg
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Research Topics

Lysosomal Storage Disorders Research(31), Cellular transport and secretion(16), Biomedical Research and Pathophysiology(12), Metabolism and Genetic Disorders(10), Mitochondrial Function and Pathology(9)

Publications79 total

Correction to: Adenotonsillar pathology in mucopolysaccharidoses – lysosomal storage predominates in paracortical CD63 + cells
Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin·2024· 1 citedOpen Access
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis
Kidney International Reports·2024· 8 citedOpen Access
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis
Kidney International·2023· 12 citedOpen Access
Adenotonsillar pathology in mucopolysaccharidoses – lysosomal storage predominates in paracortical CD63+ cells
Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin·2023Open Access
AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
2022· 6 citedOpen Access
Autosomal dominant tubulointerstitial kidney disease: A review
American Journal of Medical Genetics Part C Seminars in Medical Genetics·2022· 35 citedOpen Access
Anderson-Fabry disease: No histological signs of pathological accumulation in arterial and venous endothelium during pegunigalsidase alfa therapy
Kardiologia Polska·2021· 2 citedOpen Access
Bilateral Amyloidosis of Three Eyelids. A Case Report
Czech and Slovak Ophthalmology·2021Open Access
Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient
Cardiovascular Pathology·2020· 5 cited
<i>NOTCH2NLC</i> CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease
Journal of Neuropathology & Experimental Neurology·2020· 10 citedOpen Access
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to mutations identifies distinct clinical subtypes
Kidney International·2020· 40 citedOpen Access
Long‐term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria
Human Mutation·2020· 9 cited
GPD1 Deficiency – Underdiagnosed Cause of Liver Disease
The Indian Journal of Pediatrics·2020· 8 cited
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
Orphanet Journal of Rare Diseases·2020· 10 citedOpen Access
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Research Square (Research Square)·2020Open Access
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
European Journal of Human Genetics·2020· 16 citedOpen Access
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
2019· 1 citedOpen Access
Palladium causes bizarre skin hyperpigmentation in long‐term dihydrocodeinone ‘Braun’ abusers
Journal of the European Academy of Dermatology and Venereology·2019· 4 cited
SP025Aberrant biogenesis and trafficking of secretory proteins is a common pathogenetic mechanism of autosomal dominant tubulointerstitial kidney disease (ADTKD)
Nephrology Dialysis Transplantation·2019Open Access
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease
Journal of the American Society of Nephrology·2018· 53 citedOpen Access
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Frequent Co-authors

Stanislav Kmoch(21), M. Elleder(21), Veronika Barešová(15), Viktor Stránecký(14), Kateřina Hodaňová(14), Jana Sovová(13), Petr Vyleťal(12), Hana Hartmannová(12), Anthony J. Bleyer(11), Anna Přistoupilová(11), Martina Živná(11), Jakub Sikora(11), J Zeman(9), Helena Poupětová(8), J. Ledvinová(8), Kendrah Kidd(7), J Živný(6), Ivana Jedličková(6), Hana Hansíková(6), Lenka Nosková(5)