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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...
Autores principales: | Bernini, Andrea, Petricci, Elena, Atrei, Andrea, Baratto, Maria Camilla, Manetti, Fabrizio, Santucci, Annalisa |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
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Materias: | |
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 |
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