Pathologic substrate of gastropathy in Anderson-Fabry disease

Pathologic substrate of gastropathy in Anderson-Fabry disease

Abstract 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 th...

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Bibliographic Details
Main Authors: Alessandro Di Toro, Nupoor Narula, Lorenzo Giuliani, Monica Concardi, Alexandra Smirnova, Valentina Favalli, Mario Urtis, Costanza Alvisi, Elena Antoniazzi, Eloisa Arbustini
Format: Article
Language:English
Published: BMC 2020-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Anderson Fabry disease (AFD)
Gastropathy
Esophagogastroduodenoscopy (EGD)
Globotriaosylceramide (GB3)
Online Access:http://link.springer.com/article/10.1186/s13023-020-01436-2

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http://link.springer.com/article/10.1186/s13023-020-01436-2

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