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Integrative Systems Biology Investigation of Fabry Disease

Fabry disease (FD) is a rare X-linked recessive genetic disorder caused by a deficient activity of the lysosomal enzyme alpha-galactosidase A (GLA) and is characterised by intra-lysosomal accumulation of globotriaosylceramide (Gb3). We performed a meta-analysis of peer-reviewed publications includin...

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Detalles Bibliográficos
Autores principales: Fernandes, Marco, Husi, Holger
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5456327/
https://www.ncbi.nlm.nih.gov/pubmed/28933415
http://dx.doi.org/10.3390/diseases4040035