Direct genetic testing in Spanish adults at high risk for Fabry disease uncovered 10 previously unreported mutations in the…
Articles by Patricia Inácio, PhD
Using a computer-assisted test on biopsy data from people with Fabry disease can automatically measure the amount of fatty…
A middle-aged man with Fabry disease developed severe narrowing in all three major heart arteries despite receiving standard treatment and…
A U.S.-based Phase 1/2a clinical trial testing AMT-191, uniQure’s gene therapy treatment for Fabry disease, has completed enrollment…
The first patient has been dosed in uniQure’s U.S. Phase 1/2a clinical trial of AMT-191, its gene therapy candidate…
A woman in her 20s with Fabry disease was safely treated with agalsidase alfa — a commonly used…
A man with Fabry disease experienced an easing of neuropathic pain, or nerve pain, with medical cannabis after failing…
Incorporating a three-tiered approach to newborn screening (NBS) makes it highly feasible for large-scale programs, according to a recent study…
A 55-year-old man with a Fabry disease-related tumor in the large intestine was treated successfully with a nonsurgical procedure…
Fabry disease remains widely underdiagnosed, especially among women, according to a new population-based study that identified one undiagnosed case…