Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report

BACKGROUND: Fabry disease is a rare inborn error of metabolism with profound clinical consequences if untreated. It is caused by the deficiency of α galactosidase A enzyme and is the only lysosomal storage disorder with an X linked inheritance. Confirmation requires genetic analysis of Galactosidase...

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Detalles Bibliográficos
Autores principales: Hewavitharana, Hasani, Jasinge, Eresha, Abeysekera, Hiranya, Wanigasinghe, Jithangi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7341576/
https://www.ncbi.nlm.nih.gov/pubmed/32641113
http://dx.doi.org/10.1186/s12887-020-02237-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7341576/
https://www.ncbi.nlm.nih.gov/pubmed/32641113
http://dx.doi.org/10.1186/s12887-020-02237-z

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