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Paediatric Fabry disease
Fabry disease is a rare, progressive X-linked inborn error of the glycosphingolipid metabolic pathway. Mutations of the GLA gene result in deficiency of the lysosomal enzyme, α-galactosidase A (α-Gal A) with accumulation of glycosphingolipids, particularly globotriaosylceramide (GL3) in the vascular...
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| Publicado no: | Transl Pediatr |
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| Autor principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
AME Publishing Company
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4729035/ https://ncbi.nlm.nih.gov/pubmed/26835405 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2224-4336.2015.12.02 |
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