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Fabry disease in children and the effects of enzyme replacement treatment
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a deficiency in the activity of the lysosomal enzyme, α-galactosidase A. In affected patients, the enzyme substrate, globotriaosylceramide (Gb3), accumulates in cells of various tissues and organs. Lysosomal acc...
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| Autors principals: | , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer-Verlag
2009
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2745529/ https://ncbi.nlm.nih.gov/pubmed/19242721 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00431-009-0937-9 |
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