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

Abstract 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 Galac...

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Principais autores: Hasani Hewavitharana (Autor), Eresha Jasinge (Autor), Hiranya Abeysekera (Autor), Jithangi Wanigasinghe (Autor)
Formato: Livro
Publicado em: BMC, 2020-07-01T00:00:00Z.
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3rd Floor Main Library

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Número de Chamada: A1234.567
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