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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
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 |