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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Bibliografische gegevens
Gepubliceerd in:Orphanet J Rare Dis
Hoofdauteurs: Di Toro, Alessandro, Narula, Nupoor, Giuliani, Lorenzo, Concardi, Monica, Smirnova, Alexandra, Favalli, Valentina, Urtis, Mario, Alvisi, Costanza, Antoniazzi, Elena, Arbustini, Eloisa
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2020
Onderwerpen:
Letter to the Editor
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7310490/
https://ncbi.nlm.nih.gov/pubmed/32571412
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01436-2
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