Fabry disease screening in high-risk populations in Japan: a nationwide study | Orphanet Journal of Rare Diseases | Full Text

Fabry disease screening in high-risk populations in Japan: a nationwide study | Orphanet Journal of Rare Diseases | Full Text

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

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, ...

Authors:Shinichiro Yoshida, Jun Kido, Takaaki Sawada, Ken Momosaki, Keishin Sugawara, Shirou Matsumoto, Fumio Endo and Kimitoshi Nakamura

Citation:Orphanet Journal of Rare Diseases 2020 15:220

Content type:Research

 

Published on: 26 August 2020

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