Korean investigators have discovered a new mutation in the GLA gene — located on the X chromosome…
Articles by Joana Carvalho, PhD
Scientists have found evidence that a GLA gene variant of unknown pathogenicity — meaning its…
Heart cells derived from patients’ stem cells and grown in a lab dish can reveal important clues about the development…
A new mutation in the GLA gene was found in a Chinese patient with Fabry disease that leads…
Sperm abnormalities in men with Fabry disease do not compromise their fertility or overall reproductive function, a study finds.
AMT-190, uniQure‘s investigational gene therapy for the treatment of Fabry disease, shows promise as a one-time…
Amicus Therapeutics‘ Galafold (migalastat) provides clinical benefit to patients carrying amenable Fabry disease mutations, regardless of disease…
Galafold (migalastat) increases the activity of alpha-galactosidase A, stabilizes serum biomarkers, and improves heart function in patients with…
Scientists discovered a new mutation in the GLA gene that leads to the production of a shorter protein in…
Enzyme replacement therapy (ERT) partially restores the function of lysosomes and mitochondria in patients with Gaucher and Fabry…