Pathologic substrate of gastropathy in Anderson-Fabry disease

In both classic and late-onset AFD, mutations of the GLA gene cause deficient activity of the alpha-galactosidase enzyme resulting in intracellular accumulation of the undigested substrate. Gastrointestinal symptoms (GI) are common but non-specific and imputed to the AFD, irrespective of the demonst...

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Detalles Bibliográficos
Autores principales: Di Toro, Alessandro, Narula, Nupoor, Giuliani, Lorenzo, Concardi, Monica, Smirnova, Alexandra, Favalli, Valentina, Urtis, Mario, Alvisi, Costanza, Antoniazzi, Elena, Arbustini, Eloisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7310490/
https://www.ncbi.nlm.nih.gov/pubmed/32571412
http://dx.doi.org/10.1186/s13023-020-01436-2

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