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Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1
Urocanic aciduria is caused by a deficiency in the enzyme urocanase (E.C. 4.2.1.49) encoded by the gene UROC1. In the past, deficiency of urocanase has been associated with intellectual disability in a few case studies with some suggestion that the enzyme deficiency was the causative etiology. Here,...
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| Publicado no: | Mol Genet Metab Rep |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6312870/ https://ncbi.nlm.nih.gov/pubmed/30619714 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.12.005 |
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