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Ocular findings in Fabry disease in Colombian patients

Fabry disease is a rare X-linked disorder caused by an alpha-galactosidase enzyme deficiency, which leads to a progressive lysosomal glycosphingolipids accumulation, mainly globotriaosylceramide, in multiple organism tissues including the eye. This case series describes the first ophthalmological Co...

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Detalles Bibliográficos
Autores principales:	Rothstein, Katherine, Gálvez, Jubby M., Gutiérrez, Ángela M., Rico, Laura, Criollo, Eveling, de-la-Torre, Alejandra
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Instituto Nacional de Salud 2019
Materias:	Case Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357367/ https://www.ncbi.nlm.nih.gov/pubmed/31584758 http://dx.doi.org/10.7705/biomedica.3841

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