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Major Organic Involvement in Women with Fabry Disease in Argentina

Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the alpha galactosidase A enzyme. Organic involvement in men is well known, but in women it is controversial, partly due to the random X-chromosomes inactivation (Lyon hypothesis). The aim of thi...

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Detalles Bibliográficos
Autores principales: Perretta, Fernando, Antongiovanni, Norberto, Jaurretche, Sebastián
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987241/
https://www.ncbi.nlm.nih.gov/pubmed/29950951
http://dx.doi.org/10.1155/2018/6515613