Questioning the Pathogenic Role of the GLA p.Ala143Thr “Mutation” in Fabry Disease: Implications for Screening Studies and ERT

Fabry disease is an X-linked inborn error of glycosphingolipid metabolism caused by quantitative or qualitative defects in the lysosomal enzyme alfa-Galactosidase A (aGAL A), ultimately resulting in vital organ dysfunction. Mainly the kidneys, the heart, and the central nervous system are involved....

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Autores principales: Terryn, W., Vanholder, R., Hemelsoet, D., Leroy, B. P., Van Biesen, W., De Schoenmakere, G., Wuyts, B., Claes, K., De Backer, J., De Paepe, G., Fogo, A., Praet, M., Poppe, B.
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer Berlin Heidelberg 2012
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3565658/
https://ncbi.nlm.nih.gov/pubmed/23430526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_167
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