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Metabolic progression to clinical phenotype in classic Fabry disease

BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder due to α-galactosidase A (α-Gal A) deficiency. Clinical onset of Fabry disease is preceded by significant storage of globotriaosylceramide (Gb3) and related glycosphingolipids, but the extent of the metabolic progression before symp...

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Detalles Bibliográficos
Autores principales:	Spada, Marco, Kasper, David, Pagliardini, Veronica, Biamino, Elisa, Giachero, Silvana, Porta, Francesco
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5209809/ https://www.ncbi.nlm.nih.gov/pubmed/28049500 http://dx.doi.org/10.1186/s13052-016-0320-1

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