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Helena Hůlková

First Faculty of Medicine, Charles University in Prague
Charles University in Prague

57

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Anderson-Fabry disease - no histological signs of pathological accumulation in arterial and venous endothelium during pegunigalsidase alfa therapy.

2021 Kardiologia Polska
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Long‐term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria

2020 Human Mutation
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NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease.

2020 Journal of Neuropathology and Experimental Neurology
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An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes.

2020 Kidney International
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Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.

2020 Orphanet Journal of Rare Diseases
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Specific storage of glycoconjugates with terminal α-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B.

2018 Glycobiology
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Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient

2018 Cardiovascular Pathology
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Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

2018 Neurology
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Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

2018 Journal of The American Society of Nephrology
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Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria

2017 The FASEB Journal
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