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Diagnosis and Screening of Patients with Fabry Disease
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by absence or deficient activity of α-galactosidase A (α-Gal A) due to mutations in the α-galactosidase A gene (GLA), leading to progressive accumulation of globotriaosylceramide (Gb3) in tissues and organs including heart, kidney,...
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| Publicado no: | Ther Clin Risk Manag |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Dove
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7319521/ https://ncbi.nlm.nih.gov/pubmed/32606714 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TCRM.S247814 |
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