A molecular spectroscopy approach for the investigation of early phase ochronotic pigment development in Alkaptonuria

Alkaptonuria (AKU), a rare genetic disorder, is characterized by the accumulation of homogentisic acid (HGA) in organs due to a deficiency in functional levels of the enzyme homogentisate 1,2-dioxygenase (HGD), required for the breakdown of HGA, because of mutations in the HGD gene. Over time, HGA a...

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Detalles Bibliográficos
Autores principales: Bernini, Andrea, Petricci, Elena, Atrei, Andrea, Baratto, Maria Camilla, Manetti, Fabrizio, Santucci, Annalisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8605014/
https://www.ncbi.nlm.nih.gov/pubmed/34799606
http://dx.doi.org/10.1038/s41598-021-01670-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8605014/
https://www.ncbi.nlm.nih.gov/pubmed/34799606
http://dx.doi.org/10.1038/s41598-021-01670-z

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