A novel mutation and in vivo confocal microscopic findings in Fabry disease

Fabry disease is a hereditary, X-linked lysosomal storage disease due to a deficiency of the alpha galactosidase A enzyme. Globotriaosylceramide accumulates in tissues and results in multiorgan dysfunction. The most common ocular finding in Fabry disease is cornea verticillata. Increase in conjuncti...

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Detalles Bibliográficos
Autores principales: Degirmenci, Cumali, Yilmaz, Suzan Guven, Onay, Huseyin, Palamar, Melis, Ucar, Sema Kalkan, Kayikcioglu, Meral, Coker, Mahmut
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352937/
https://www.ncbi.nlm.nih.gov/pubmed/28337063
http://dx.doi.org/10.1016/j.sjopt.2016.12.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352937/
https://www.ncbi.nlm.nih.gov/pubmed/28337063
http://dx.doi.org/10.1016/j.sjopt.2016.12.005

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