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Alkaptonuria with extensive ochronotic degeneration of the Achilles tendon and its surgical treatment: a case report and literature review

BACKGROUND: Alkaptonuria is a rare genetic metabolic disorder due to deficiency of homogentisate 1,2-dioxygenase (HGD), an enzyme catalyzing the conversion of homogentisate to 4-maleylacetoacetate in the pathway for the catabolism of phenylalanine and tyrosine. HGD deficiency results in accumulation...

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Detalles Bibliográficos
Autores principales:	Mwafi, Nesrin, Alasmar, Ali, Al-Momani, Monther, Alazaydeh, Sattam, Alajoulin, Omar, Alsalem, Mohammad, Kalbouneh, Heba
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sciendo 2021
Materias:	Clinical Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10388780/ https://www.ncbi.nlm.nih.gov/pubmed/37551372 http://dx.doi.org/10.2478/abm-2021-0016

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