Severe neuropathic pain is a hallmark of Fabry disease, a genetic disorder caused by a
deficiency in lysosomal α-galactosidase A. Pain experienced by these patients significantly …

Our ability to quickly detect and respond to harmful environmental stimuli is vital for our
safety and survival. This inherent acute pain detection is a “gift” because it both protects our …

Fabry disease is caused by a deficiency of lysosomal alpha galactosidase and has a very
large genotypic and phenotypic spectrum. Some patients who carry hypomorphic mutations …

This is the first study to show both dynamic thiol-disulfide balance and oxidative stress levels
in patients with Fabry disease (FD). This prospective study consists of 30 FD patients and 30 …

Fabry disease is a lysosomal storage disease caused by mutations in the GLA gene that
encodes alpha-galactosidase (AGAL). The disease causes abnormal globotriaosylceramide …

Fabry Disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA
gene on the X chromosome, leading to a deficiency in α-galactosidase A (AGAL) enzyme …

Pain is a clinical condition that is currently of great concern and is often caused by tissue or
nerve damage or occurs as a concomitant symptom of a variety of diseases such as cancer …

Fabry disease (FD) is caused by mutations in the galactosidase alpha (GLA) gene which
lead to the accumulation of globotriaosylceramide (Gb-3). Enzyme replacement therapy …

The skin, by reflecting internal processes, externalizes what happens inside the body in
many diseases. Thus, the skin, as an organ, extrapolates its functions of protection, barrier …

Abstract Background Gaucher's and Fabry's disease are two of the most common treatable
lysosomal storage diseases, and have a wide spectrum of clinical symptoms. Early detection …