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Alkaptonuria: A case report
Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunc...
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| Pubblicato in: | Indian J Ophthalmol |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Medknow Publications & Media Pvt Ltd
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5508465/ https://ncbi.nlm.nih.gov/pubmed/28643719 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/ijo.IJO_337_16 |
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