Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed

BACKGROUND: Fabry disease (FD) is a rare X-linked deficiency of lysosomal enzyme alpha-galactosidase (AGAL) resulting in accumulation of globotriaosylceramide (Gb-3) in the cells, with protean manifestations. Major organs affected are the kidneys, heart and nervous system. The diagnosis of FD is oft...

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Detalles Bibliográficos
Autores principales: Jamboti, Jagadish, Forrest, Cynthia H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Society of Diabetic Nephropathy Prevention 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607972/
https://www.ncbi.nlm.nih.gov/pubmed/28975091
http://dx.doi.org/10.15171/jnp.2017.22

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607972/
https://www.ncbi.nlm.nih.gov/pubmed/28975091
http://dx.doi.org/10.15171/jnp.2017.22

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