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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2021
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| Materias: | |
| 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 |