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

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

Abstract 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 ti...

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Autores principales: Andrea Bernini, Elena Petricci, Andrea Atrei, Maria Camilla Baratto, Fabrizio Manetti, Annalisa Santucci
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/67404596870e443d8436200fe91b2752
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