High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review

Fabry disease (FD) is an X-linked inherited disorder caused by mutations in the GLA gene, which encodes the lysosomal enzyme α-galactosidase A (α-Gal A). FD detection in patients at an early stage is essential to achieve sufficient treatment effects, and high-risk screening may be effective. Here, w...

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Detalles Bibliográficos
Autores principales: Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8534369/
https://www.ncbi.nlm.nih.gov/pubmed/34679477
http://dx.doi.org/10.3390/diagnostics11101779

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8534369/
https://www.ncbi.nlm.nih.gov/pubmed/34679477
http://dx.doi.org/10.3390/diagnostics11101779

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