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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...

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Detalles Bibliográficos
Autores principales: Wu, Katherine, Bauer, Erin, Myung, Gihyun, Fang, Meika A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medical Research and Education Association 2019
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