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

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 ne...

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Detalles Bibliográficos
Autores principales: Yoshida, Shinichiro, Kido, Jun, Sawada, Takaaki, Momosaki, Ken, Sugawara, Keishin, Matsumoto, Shirou, Endo, Fumio, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448968/
https://www.ncbi.nlm.nih.gov/pubmed/32843101
http://dx.doi.org/10.1186/s13023-020-01494-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448968/
https://www.ncbi.nlm.nih.gov/pubmed/32843101
http://dx.doi.org/10.1186/s13023-020-01494-6

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