Results 71 to 80 of about 4,907,795 (224)
Cornea verticillata in Fabry disease [PDF]
Терапевтический архив, 2018 Cornea verticillata is the typical sign of ocular involvement in Fabry disease and manifests by the whorl-like, linear opacities in the inferior part of the cornea. Aim.
S V Moiseev +6 more
doaj +1 more source
Electron, EarlyView.Physics‐driven advances in optical nanobiosensors for rapid, miniaturized, and point‐of‐care diagnostics for next‐generation decentralized and personalized healthcare based on sensor intelligence. ABSTRACT Public health emergencies and the escalating burden of chronic diseases necessitate a paradigm shift from centralized laboratory testing to rapid ...
Vishal Chaudhary +5 more
wiley +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia 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
Cavity length independent continuous repetition rate tuning of a self-seeded gain-switched Fabry-Pérot laser [PDF]
, 2007 We propose a novel method that allows continuous repetition rate tuning of a self-seeded gain-switched Fabry-Perot laser without the need for change in cavity length.
Anandarajah, Prince M. +2 more
core +2 more sources
Molecular Pain, 2016 Background Fabry disease is an X-linked lysosomal storage disorder due to impaired activity of alpha-galactosidase A with intracellular accumulation of globotriaosylceramide. Associated small fiber pathology leads to characteristic pain in Fabry disease.
Nurcan Üçeyler MD +4 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2023 Background Fabry disease is a rare, X-linked inherited lysosomal storage disorder, that manifests as a heterogeneous disease with renal, cardiac and nervous system involvement. The most common pain experienced by people with Fabry disease are episodes of
Karolina M. Stepien +9 more
doaj +1 more source
British Journal of Pharmacology, EarlyView.Abstract Vascular toxicity is a growing concern in cancer patients receiving vascular endothelial growth factor inhibitor (VEGFi) therapy, posing a significant threat to patient prognosis. While the primary mechanism of VEGFi‐induced vascular toxicity is linked to redox‐sensitive reactions that disrupt vascular tone, leading to hypertension and ...
Grace Whelan, Karla B. Neves
wiley +1 more source
Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease
Clinical Genetics, EarlyView.Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler +5 more
wiley +1 more source
Diabetes, Obesity and Metabolism, EarlyView.ABSTRACT Background and Aim Fabry disease (FD) is frequently complicated by renal impairment and cardiovascular events; however, evidence on sodium–glucose cotransporter‐2 inhibitors (SGLT2i) in this population is scarce. Accordingly, we assessed the association between SGLT2i exposure and cardiovascular outcomes in adults with FD. Methods We conducted
Leandra Serio +8 more
wiley +1 more source
Long-Term Outcomes of Kidney Transplantation in Fabry Disease [PDF]
, 2018 BACKGROUND: Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene that obliterate or markedly reduce α-galactosidase A activity.
Mueller, Thomas F +33 more
core +2 more sources