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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2020-07-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12887-020-02237-z |