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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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
BMC,
2020-07-01T00:00:00Z.
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