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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...
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| Vydáno v: | BMC Pediatr |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7341576/ https://ncbi.nlm.nih.gov/pubmed/32641113 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-020-02237-z |
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