Results 51 to 60 of about 11,284 (188)

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

BMC 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, Necmi Eren, Mevlut Tamer Dincer, Zeynep Atli, Murat Bolayirli, Metin Ergul, Hakan Ozer, Kultigin Turkmen, Sinan Trabulus, Nurhan Seyahi   +9 more
doaj   +1 more source

Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development

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, Lydia Biko, Dorothea Hose, Lukas Hofmann BSc, Claudia Sommer MD   +4 more
doaj   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Environmental Pesticide Exposure in the Etiology of Pediatric Brain Tumors and Leukemia: A Scoping Review of Epidemiological Studies

International Journal of Cancer, EarlyView.
ABSTRACT Pediatric cancer is a significant cause of morbidity and mortality in children. The etiologies of pediatric cancer are largely unknown, but environmental pesticide exposures are likely to contribute. Chronic low‐dose exposure to pesticide mixtures through drinking water is a growing concern in agricultural communities.
Grace N. VanDeSteeg, Alyssa R. Russum, Matthew R. Sandbulte, Eleanor G. Rogan, Martha G. Rhoades   +4 more
wiley   +1 more source

Targeting fibrosis in the treatment of lower urinary tract dysfunction

The Journal of Pathology, EarlyView.
Abstract Benign prostatic hyperplasia (BPH) is a widely prevalent age‐associated disease that is the main contributor to lower urinary tract dysfunction (LUTD) in aging men. Although prostate fibrosis has been recognized as a contributor to BPH pathophysiology, there are not any clinically available therapeutics that target this aspect of disease ...
Ajinkya R Limkar, Sophia M Vrba, Emily A Ricke, Zsuzsanna Fabry, Matthew S Lee, Kevin T McVary, William A Ricke   +6 more
wiley   +1 more source

Arrhythmogenesis in Fabry Disease

Current Cardiology Reports
Abstract Purpose of Review Fabry Disease (FD) is a rare lysosomal storage disorder characterised by multiorgan accumulation of glycosphingolipid due to deficiency in the enzyme α-galactosidase A. Cardiac sphingolipid accumulation triggers various types of arrhythmias, predominantly ventricular arrhythmia, bradyarrhythmia,
Roy, Ashwin, Cumberland, Max J., O’Shea, Christopher, Holmes, Andrew, Kalla, Manish, Gehmlich, Katja, Geberhiwot, Tarekegn, Steeds, Richard P.   +7 more
openaire   +2 more sources

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Structural, Compositional, and Dielectric State Profiling in Label‐Free Single‐Cell Monitoring

Small Methods, EarlyView.
Label‐free single‐cell monitoring leverages distinct physical interactions to access structural, compositional, and dielectric states of cells, enabling non‐perturbative, repeatable, and information‐rich measurements across diverse biological contexts. This review organizes representative platforms by intrinsic state variables and connects measurement ...
Changi Baek, Youngho Song, Seongcheol Park, Sujin Hyung, Sang Eun Yoon, Yong Jae Shin, Soo‐Yeon Cho   +6 more
wiley   +1 more source

Fabry disease and the heart

Best Practice & Research Clinical Endocrinology & Metabolism, 2015
Fabry disease is induced by a mutation in the alpha-galactosidase A gene, causing a deficiency of the enzyme alpha-galactosidase A. (1) The enzyme defect leads to progressive intracellular accumulation of globotriaosylceramide in lysosomes of various tissues and organs, including heart, kidney and nerve system.
Seydelmann, Nora, Wanner, Christoph, Störk, Stefan, Ertl, Georg, Weidemann, Frank   +4 more
openaire   +2 more sources

Renal‐vascular axis: unmasking its role in vascular endothelial growth factor‐inhibitor vascular toxicity in cancer patients

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