Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria

Alkaptonuria (AKU) is an ultra-rare metabolic disease caused by the accumulation of homogentisic acid (HGA), an intermediate product of phenylalanine and tyrosine degradation. AKU patients carry variants within the gene coding for homogentisate-1,2-dioxygenase (HGD), which are responsible for reduci...

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Detalles Bibliográficos
Autores principales: Grasso, Daniela, Geminiani, Michela, Galderisi, Silvia, Iacomelli, Gabriella, Peruzzi, Luana, Marzocchi, Barbara, Santucci, Annalisa, Bernini, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9779518/
https://www.ncbi.nlm.nih.gov/pubmed/36555443
http://dx.doi.org/10.3390/ijms232415805

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