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Musculoskeletal manifestations of alkaptonuria: A case report and literature review
Alkaptonuria (AKU) is a rare autosomal recessive disorder that results from the deficient activity of homogentisate 1,2-dioxygenase and leads to increased levels of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA). Both HGA and BQA form polymerized deposits that lead t...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medical Research and Education Association
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467321/ https://www.ncbi.nlm.nih.gov/pubmed/30451653 http://dx.doi.org/10.5152/eurjrheum.2018.18116 |