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Two-thirds of patients with Fabry disease suffer debilitating pain attacks triggered by exercise, fever, and exposure to environmental heat. These patients face endure even greater risk of heat-related episodic pain in the face of global climate change. Almost nothing is known about the biological mechanisms underlying heat-induced pain crises in Fabry disease, and there is no preclinical model available for to study Fabry crises.
View Article and Find Full Text PDFZebra Bodies in the Kidney: Is it a Pathognomonic Finding of Fabry Disease?
Indian J Nephrol
June 2024
Department of Microbiology, All India Institute of Medical Sciences, Patna, Bihar, India.
Zebra bodies are intralysosomal lamellar inclusion bodies. It is accepted as a specific feature of Fabry disease. However, it has been reported in many hereditary and acquired conditions.
View Article and Find Full Text PDFEarly Potentially Irreversible Cardiac Damage in Fabry Disease Precedes Gb3 Inclusion Body Formation.
Can J Cardiol
March 2025
Institute of Clinical Medicine, National Yang-Ming Chiao-Tung University, Taipei, Taiwan; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. Electronic address:
Background: Fabry disease (FD) is a lysosomal storage disorder impacting multiple organs, including the heart. We investigated whether early-stage globotriaosylceramide (Gb3) accumulation, occurring before the formation of inclusion bodies, could cause significant stress and potentially irreversible damages of the cardiac tissue in FD patients.
Methods: Immunofluorescent (IF) staining and Western blotting were performed on fibroblasts from FD IVS4 patients and myocardial biopsies from G3Stg/GLAko mice as well as three IVS4 patients (aged 44, 37, and 41 years).
Cutaneous manifestations of Fabry disease: A systematic review.
J Dermatol
March 2025
Department of Dermatology, Bispebjerg and Frederiksberg Hospital, Copenhagen University Hospitals, Copenhagen, Denmark.
Fabry disease (FD) is a rare X-linked lysosomal storage disorder resulting in potential debilitating accumulation of glycosphingolipids in organs such as skin, nerves, heart, kidneys, lungs, and the central nervous system. Skin is easily investigated and can guide clinicians to diagnose FD, minimizing delay of enzyme substitution therapy. This systematic review followed the PICO and PRISMA guidelines.
View Article and Find Full Text PDFRight atrial strain in Anderson-Fabry disease.
Front Cardiovasc Med
February 2025
Dipartimento di Scienze Cardiovascolari-CUORE, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Background: To date, only limited data are available on right atrium (RA) morphofunctional remodeling in Fabry disease (FD).
Purpose: We aimed to investigate RA structural and functional remodeling in patients with FD vs. healthy controls using 2D speckle tracking echocardiography (STE) and to explore whether any differences exist in FD patients with and without left ventricular hypertrophy (LVH).
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