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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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| 出版年: | Orphanet J Rare Dis |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7448968/ https://ncbi.nlm.nih.gov/pubmed/32843101 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01494-6 |
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