Results 101 to 110 of about 9,399,207 (308)

Causal correlations between inflammatory proteins and heart failure: A two‐sample Mendelian randomization analysis

open access: yesESC Heart Failure, Volume 12, Issue 2, Page 1374-1385, April 2025.
Abstract Aims Inflammation plays a critical role in both the development and progression of heart failure (HF), which is a leading cause of morbidity and mortality worldwide. However, the causality between specific inflammation‐related proteins and HF risk remains unclear.
Xian‐Guan Zhu   +9 more
wiley   +1 more source

The relationship between multiple plasma biomarker levels and renal disease activity in Fabry disease

open access: yesBMC Nephrology
Background Fabry disease is a rare lysosomal storage disorder. The genotypic and phenotypic heterogeneity of the disease complicates the prediction of disease activity.
Seyda Gul Ozcan   +9 more
doaj   +1 more source

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy [PDF]

open access: yes, 2002
Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown.
Elliott, PM   +6 more
core   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Drug delivery in overcoming the blood-brain barrier: role of nasal mucosal grafting [PDF]

open access: yes, 2017
The blood–brain barrier (BBB) plays a fundamental role in protecting and maintaining the homeostasis of the brain. For this reason, drug delivery to the brain is much more difficult than that to other compartments of the body. In order to bypass or cross
Carafa, Maria   +5 more
core   +1 more source

Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year

open access: yesClinical pharmacology and therapy, 2019
Long‐term effects of migalastat therapy in clinical practice are currently unknown. We evaluated migalastat efficacy and biomarker changes in a prospective, single‐center study on 14 patients with Fabry disease (55 ± 14 years; 11 men).
Jonas Müntze   +10 more
semanticscholar   +1 more source

Exploring the Link Between Psoriasis and Genetic Predictors of Cardiac Magnetic Resonance Traits: A Bidirectional Mendelian Randomization Study

open access: yesiNew Medicine, EarlyView.
ABSTRACT Psoriasis is a chronic autoimmune disease characterized by systemic inflammation and skin involvement, affecting millions of individuals worldwide. However, few studies have evaluated whether psoriasis and cardiac magnetic resonance imaging (CMR) traits share a common genetic basis.
Junlin Yang   +8 more
wiley   +1 more source

Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease [PDF]

open access: yes, 2017
Aims A hallmark of Fabry disease is the concomitant development of left-ventricular hypertrophy and arterial intima-media thickening, the pathogenesis of which is thought to be related to the presence of a plasmatic circulating growth-promoting factor ...
Barbey, Frédéric   +7 more
core  

A 15-year perspective of the fabry outcome survey [PDF]

open access: yes, 2016
The Fabry Outcome Survey (FOS) is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agala).
Beck, M   +9 more
core   +2 more sources

Quantitative Mapping of Fibrotic Tissue Mechanics via Brillouin Spectroscopy

open access: yesJournal of Biophotonics, EarlyView.
Brillouin spectroscopy distinguishes fibrotic from healthy tissue based on localized stiffness changes and enables real‐time monitoring of dynamic alterations in viscoelastic properties during fibrogenesis. ABSTRACT Fibrosis is a pathological scarring process that disrupts tissue architecture, and is characterized by excessive extracellular matrix (ECM)
Vsevolod Cheburkanov   +3 more
wiley   +1 more source

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