Browse diseases

…/CMR using 68Ga-DOTATATE for imaging myocardial inflammation in Fabry disease.Methods Twelve patients with Fabry disease and cardiac involvem…

…Background Fabry disease is a progressive, X-linked lysosomal disorder caused by reduced…

…representation of people from minority ethnic groups within our Fabry disease (FD) service, with only 9% of cases from minority ethnic backgr…

…Introduction Fabry disease (FD), a rare X-linked lysosomal storage disorder characterized …

…entified on transthoracic echocardiogram. He was diagnosed with hypertrophic cardiomyopathy without any further investigations. He later presented in his 7…

…Background Fabry disease (FD) is a rare X-linked lysosomal disorder characterized by def…

…erebrovascular accidents (n=7), post-COVID-19 neuropathy (n=5), amyotrophic lateral sclerosis (n=4), chronic inflammatory demyelinating polyneuropathy (n=4),…

…Background Fabry disease (FD) is an X linked lysosomal disorder with ventricular myocard…

…ia, hereditary amyloidosis, Fabry disease, haemochromatosis and thoracic aortic aneurysm.10 positive results and 1 high polygenic risk score were identi…

…Fabry disease (FD) is an inherited X-linked lysosomal disorder resulting in t…