Enzyme-Replacement Therapy in Fabry Disease
Fabry disease is a rare X-linked lysosomal storage disorder due to mutations in the GLA gene causing complete or partial deficiency of the lysosomal enzyme alpha-galactosidase A (a-Gal A). This enzyme deficiency results in tissue accumulation of trihexosylceramide causing the diseases’ systemic mani...
Guardado en:
| Autores principales: | , , , , |
|---|---|
| Formato: | Capítulo de libro |
| Lenguaje: | inglés |
| Publicado: |
IntechOpen
2022
|
| Materias: | |
| Acceso en línea: | https://www.intechopen.com/chapters/81343 |
| Etiquetas: |
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares: Enzyme-Replacement Therapy in Fabry Disease
- Renal Aspects and Enzyme Replacement Therapy of Fabry Disease
- Renal Transplantation in Patient with Fabry’s Disease Maintained by Enzyme Replacement Therapy
- Fabry Disease
- Enzyme Therapy for Coeliac Disease: Is It Ready For Prime Time?
- Fabry Disease: A Metabolic Proteinuric Nephropathy
- Fabry Disease – Ocular Manifestations and Visual Symptoms