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A Case of Fabry's Disease with Congenital Agammaglobulinemia
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the α-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide (Gb3) within vascular endothelium and other tissues. It manifests as progressive mu...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Academy of Medical Sciences
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3124732/ https://www.ncbi.nlm.nih.gov/pubmed/21738355 http://dx.doi.org/10.3346/jkms.2011.26.7.966 |