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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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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | 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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