Air Force veteran Melissa Hay battled years of misdiagnosis before discovering she had Fabry disease—a rare, life-threatening ...

Sangamo Therapeutics, Inc. , a genomic medicine company, today announced important derisking events in the pathway to a planned BLA submission for isaralgagene civaparvovec, or ST-920, its wholly ...

Patients with rare diseases like Fabry disease often experience long diagnostic journeys due to limited physician awareness, nonspecific symptoms, and genetic heterogeneity. Since the introduction of ...

Fabry disease, and Krabbe disease. “They are caused by a genetic defect,” explained Prof Scarpa. “These patients have clinical symptoms in all the different organs of the body: the liver ...

The questionnaire contained questions on general health and the presence or absence of manifestations of the disease as ... which included “Fabry rash” (angiokeratoma), sweating, tinnitus, exhaustion, ...

Background Patients with Fabry disease (FD) show left ventricular hypertrophy (LVH ... a second visit was scheduled to answer a questionnaire oriented to characterise signs or symptoms of FD (family ...

Rarer diseases, such as Fabry disease, would be accompanied by ocular signs such ... initially with palpitations due to atrial fibrillation (AF). While the metabolic symptoms are usually overt, ...

Your provider will use the diagnostic tests to confirm whether HCM is the reason for your symptoms and to rule out the following conditions, which can also cause thickened heart muscle. High blood ...