ArticleGenes & diseases2022
Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism.
Article in Genes & diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 23 citations in OpenAlex.
- Integrative Multi-Omics Reveals Microbiome and Genome Streamlining Underlie Ecological Divergence in Chinese and XinjiangInternational journal of molecular sciences · 2026Article
- Short-term and long-term high-fat diet promote metabolic disorder through reprogramming mRNA mMicrobiome · 2025Article
- Metabolic landscape and pathogenic insights: a comprehensive analysis of high ovarian response in infertile women undergoing in vitro fertilization.Journal of ovarian research · 2024Article
- Electronic structure and molecular properties of nitisinone and mesotrione in water.Journal of molecular modeling · 2023Article
- Metabolic profiles and fingerprints for the investigation of the influence of nitisinone on the metabolism of the yeast Saccharomyces cerevisiae.Scientific reports · 2023Article
- Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria.International journal of molecular sciences · 2022Article
- A narrative review of metabolomics in the era of "-omics": integration into clinical practice for inborn errors of metabolism.Translational pediatrics · 2022Review
- Article
- Understanding Inborn Errors of Metabolism through Metabolomics.Metabolites · 2022Review
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alkaptonuria (AKU) is an inherited disorder of tyrosine metabolism caused by lack of active enzyme homogentisate 1,2-dioxygenase (HGD). The primary consequence of HGD deficiency is increased circulating homogentisic acid (HGA), the main agent in the pathology of AKU disease. Here we report the first metabolomic analysis of AKU homozygous
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