Article
Infrared spectroscopy as a new approach for Fabry disease screening
2023-10-12
Abstract excerpt
<title>Abstract</title> <p>Background Fabry disease (FD) is a rare X-linked lysosomal storage disorder marked by alpha-galactosidase-A (α-Gal A) deficiency, caused by pathogenic mutations in the GLA gene resulting in the accumulation of glycosphingolipids inside lysosomes. The current screening test consists of measuring α-Gal A activity. However, it is limited only to men. Infrared spectroscopy is a technique t...
Topics
Open a Topic to create a Post that cites this publication.
Identifiers and source
- Literature Corpus work
- 8aa941c0-129c-5c8d-9da4-0253aef786cb
- DOI
- 10.21203/rs.3.rs-3392194/v1