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Adequacy of nitisinone for the management of alkaptonuria
Alkaptonuria is a rare hereditary disease with a defective enzyme that results in increased homogentisic acid levels in the body. Homogentisic acid accumulates in multiple body parts and initializes tissue damage. Clinical manifestations such as pigmentation of the skin areas and joint destruction r...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422360/ https://www.ncbi.nlm.nih.gov/pubmed/36045846 http://dx.doi.org/10.1016/j.amsu.2022.104340 |