Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

Fabry disease is a lysosomal storage disorder caused by a deficiency of the lysosomal enzyme α-galactosidase A (α-gal A). This enzymatic defect results in the accumulation of the glycosphingolipid globotriaosylceramide (Gb(3); also referred to as ceramidetrihexoside) throughout the body. To investig...

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Autors principals: Schiffmann, R., Murray, G. J., Treco, D., Daniel, P., Sellos-Moura, M., Myers, M., Quirk, J. M., Zirzow, G. C., Borowski, M., Loveday, K., Anderson, T., Gillespie, F., Oliver, K. L., Jeffries, N. O., Doo, E., Liang, T. J., Kreps, C., Gunter, K., Frei, K., Crutchfield, K., Selden, R. F., Brady, R. O.
Format: Artigo
Idioma:Inglês
Publicat: The National Academy of Sciences 2000
Matèries:
Biological Sciences
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC26669/
https://ncbi.nlm.nih.gov/pubmed/10618424
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