Ochronotic arthropathy: skeletal manifestations and orthopaedic treatment
Alkaptonuria is an extremely rare disorder of tyrosine metabolism caused by an autosomal recessive enzymatic deficiency of homogentisic acid (HGA) oxidase, causing its accumulation in collagenous structures, especially in hyaline cartilage. It is characterized by a triad of homogentisic aciduria, bl...
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| Principais autores: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Bioscientifica
2025-02-01
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| coleção: | EFORT Open Reviews |
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| Acesso em linha: | https://eor.bioscientifica.com/view/journals/eor/10/2/EOR-2023-0112.xml |
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