Article
Fabry disease screening in high-risk populations in Japan: A nationwide study
2020-07-29
Abstract excerpt
<title>Abstract</title> <p>Background: Fabry disease (FD) is a X-linked inherited disorder caused by mutations in the GLA gene, which results in the deficiency of α-galactosidase A (α-Gal A). This leads to the progressive accumulation of metabolites, which can cause multisystemic dysfunction. A recent screening study among neonates reported an increase in the incidence of FD, and numerous FD patients remain undia...
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Identifiers and source
- Literature Corpus work
- 9cbeba61-adef-5a8c-8a26-7d4572857755
- DOI
- 10.21203/rs.3.rs-16566/v4