Article
Infrared spectroscopy as a new approach for early Fabry disease screening: a pilot study
2024-08-26
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 <italic>GLA</italic> gene, resulting in the accumulation of glycosphingolipids within lysosomes. The current screening test consists of measuring α-Gal A activity. However, this approach is limited to males. Infrared (IR...
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Identifiers and source
- Literature Corpus work
- b0f5d737-4db7-5555-aa62-7b1d77a4d7e3
- DOI
- 10.21203/rs.3.rs-4638962/v1