Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria
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DOI: 10.3390/ijms232415805
Abstract: 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… read more here.
Keywords: biomarkers pathways; untargeted nmr; alternative biomarkers; reveals alternative ... See more keywords