Fabry disease screening in high-risk populations in Japan: a nationwide study

Fabry disease screening in high-risk populations in Japan: a nationwide study

Abstract 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...

Full description

Bibliographic Details
Main Authors: Shinichiro Yoshida, Jun Kido, Takaaki Sawada, Ken Momosaki, Keishin Sugawara, Shirou Matsumoto, Fumio Endo, Kimitoshi Nakamura
Format: Article
Language:English
Published: BMC 2020-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Fabry disease
High-risk screening
α-Galactosidase a
GLA gene
Novel variants
Online Access:http://link.springer.com/article/10.1186/s13023-020-01494-6

Internet

http://link.springer.com/article/10.1186/s13023-020-01494-6

Similar Items