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Ochronotic Arthropathy: Two Case Reports from a Developing Country
Alkaptonuria is a rare inborn error of metabolism, which is classified as an orphan disease. It is due to the lack of an enzyme homogentisate 1,2-dioxygenase, which results in an accumulation of homogentisic acid in different areas of the body, including sclera, skin, cardiac valves, articular carti...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Libertas Academica
2016
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4749042/ https://www.ncbi.nlm.nih.gov/pubmed/26884684 http://dx.doi.org/10.4137/CMAMD.S31560 |