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High Variability of Fabry Disease Manifestations in an Extended Italian Family

Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolase α-galactosidase A (α-GAL). The impairment of α-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. Thi...

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Detalles Bibliográficos
Autores principales:	Cammarata, Giuseppe, Fatuzzo, Pasquale, Rodolico, Margherita Stefania, Colomba, Paolo, Sicurella, Luigi, Iemolo, Francesco, Zizzo, Carmela, Alessandro, Riccardo, Bartolotta, Caterina, Duro, Giovanni, Monte, Ines
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421032/ https://www.ncbi.nlm.nih.gov/pubmed/25977923 http://dx.doi.org/10.1155/2015/504784

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