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Št. zadetkov: 6
Pregledni znanstveni članek
Oznake: Fabry nephropathy;biomarkers;genomics;
Progressive nephropathy is one of the main features of Fabry disease, which largely contributes to the overall morbidity and mortality burden of the disease. Due to the lack of specific biomarkers, the heterogeneity of the disease, and unspecific symptoms, diagnosis is often delayed. Clinical presen ...
Leto: 2020 Vir: Medicinska fakulteta (UL MF)
Izvirni znanstveni članek
Oznake: Fabry disease;telomere length;hyperthropic cardiomyopathy;nephropathy;stroke;
Fabry disease (FD) leads to significant morbidity and mortality, which may indicate accelerated ageing. However, it is still unclear whether there is a relationship between telomere length (TL), a marker of biological ageing, and disease outcome. We aimed to examine the relationship between leukocyt ...
Leto: 2024 Vir: Medicinska fakulteta (UL MF)
Izvirni znanstveni članek
Oznake: Fabry nephropathy;RNA sequencing;transcriptomic;Fabry disease;lysosomal storage disease;
Background/Objectives: Fabry nephropathy (FN) is a progressive complication of Fabry disease that significantly affects patient outcomes. However, the molecular mechanisms underlying FN are not yet fully understood. Recent advances in transcriptomics have opened new perspectives for the identificati ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Izvirni znanstveni članek
Oznake: nephropathy;telomere length;oxidative stress;kidney damage;biomarker;aging;Fabry disease;Hereditary diseases;Fabryjeva bolezen;Dedne bolezni;
Fabry nephropathy is a life-threatening complication of Fabry disease characterized by complex and incompletely understood pathophysiological processes possibly linked to premature aging. We aimed to investigate leukocyte telomere length (LTL), oxidative stress, and kidney damage biomarkers in rel ...
Leto: 2025 Vir: Repozitorij Univerze v Ljubljani (RUL)
Pregledni znanstveni članek
Oznake:
Background Fabry disease is a rare X-chromosome linked disease. Due to gene mutation, activity of enzyme agalactosidase A is lowered or absent and sphingolipids care deposited in different organ cells. All males with gene mutation are affected but females too, due to X chromosome inactivation, can f ...
Leto: 2006 Vir: dLib.si Digitalna knjižnica Slovenije
Izvirni znanstveni članek
Oznake: Fabry nephropathy;urinary extracellular vesicles;miRNA expression;
Current biomarkers of Fabry nephropathy lack sensitivity in detecting early kidney damageand do not predict progression of nephropathy. Urinary extracellular vesicles (uEVs) and theirmolecular cargo could reflect early changes in renal impairment as they are secreted by the cellslining the urinary t ...
Leto: 2021 Vir: Medicinska fakulteta (UL MF)
Št. zadetkov: 6
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