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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| 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 |