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Alkaptunuria; a case report

INTRODUCTION AND IMPORTANCE: Alkaptonuria is an autosomal recessive disease due to lack of the enzyme homogentisic acid oxidase. Homogentisic Acid (HA) is in the metabolism pathway of phenylalanine. The musculoskeletal symptomatology begins generally in the fourth decade. We reported the case of a 5...

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Detalles Bibliográficos
Autores principales: Elafram, Rafik, Ammou, Adnan Ben, Romdhane, Majdi Ben, Sghaier, Majdi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9627591/
https://www.ncbi.nlm.nih.gov/pubmed/36327861
http://dx.doi.org/10.1016/j.ijscr.2022.107682