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Alkaptonuria: Current Perspectives
The last 15 years have been the most fruitful in the history of research on the metabolic disorder alkaptonuria (AKU). AKU is caused by a deficiency of homogentisate dioxygenase (HGD), the enzyme involved in metabolism of tyrosine, and is characterized by the presence of dark ochronotic pigment in t...
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| Publié dans: | Appl Clin Genet |
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| Auteurs principaux: | , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Dove
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6986890/ https://ncbi.nlm.nih.gov/pubmed/32158253 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S186773 |
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