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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Detalles Bibliográficos
Autores principales: Glinton, Kevin E., Levy, Harvey L., Kennedy, Adam D., Pappan, Kirk L., Elsea, Sarah H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312870/
https://www.ncbi.nlm.nih.gov/pubmed/30619714
http://dx.doi.org/10.1016/j.ymgmr.2018.12.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312870/
https://www.ncbi.nlm.nih.gov/pubmed/30619714
http://dx.doi.org/10.1016/j.ymgmr.2018.12.005

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