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Fabry Disease: Incidence of the Common Later-Onset α-Galactosidase A IVS4+919G→A Mutation in Taiwanese Newborns—Superiority of DNA-Based to Enzyme-Based Newborn Screening for Common Mutations
Fabry disease is a panethnic, X-linked, inborn error of glycosphingolipid metabolism resulting from mutations in the α-galactosidase A gene (GLA) that lead to the deficient activity of the lysosomal enzyme, α-galactosidase A (α-Gal A). Affected males with no α-Gal A activity have the early-onset cla...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
ScholarOne
2012
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3409276/ https://ncbi.nlm.nih.gov/pubmed/22437327 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/molmed.2012.00002 |
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