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Impact of chronic kidney disease on the natural history of alkaptonuria
In alkaptonuria, deficiency of homogentisate 1,2-dioxygenase leads to the accumulation of homogentisic acid (HGA) and its metabolites in the body, resulting in ochronosis. Reports of patients with alkaptonuria who have decreased kidney function are rare, but this seems to play an important role in t...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4393483/ https://www.ncbi.nlm.nih.gov/pubmed/25874097 http://dx.doi.org/10.1093/ckj/sfs079 |