Researchers discovered new mutations in the GLA gene, the underlying cause of Fabry disease, but noted that all of…
Articles by Steve Bryson, PhD
Mild to moderate cerebrovascular disease, which occurs when blood flow in the brain is impaired, is a characteristic brain signature…
Fabry disease is underdiagnosed across different minority ethnic groups in the U.K., a study suggests. Despite making up about…
Five years after receiving the experimental Fabry disease gene therapy AVR-RD-01, kidney function in all five participants remains relatively…
Women severely affected by Fabry disease and treated with enzyme replacement therapy (ERT) and untreated women with less…
Long-term enzyme replacement therapy (ERT) normalizes markers of inflammation and oxidative stress in adults with Fabry disease, a…
Almost 1% of adults in China with an unexplained thickened wall of the heart’s main pumping chamber, called left ventricular…
A chronic cough was the only initial symptom in a 46-year-old man who was eventually diagnosed with Fabry disease,…
Modifying a potential gene therapy with a specific antibody increased its efficacy in cells that line blood vessels — cells…
Noninvasive quantitative magnetic resonance imaging, or qMRI, accurately detected excess globotriaosylceramide (Gb3), the fatty molecule that accumulates in people with…