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,...
Main Authors: | Kevin E. Glinton, Harvey L. Levy, Adam D. Kennedy, Kirk L. Pappan, Sarah H. Elsea |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2019-03-01
|
Series: | Molecular Genetics and Metabolism Reports |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426918301125 |
Similar Items
-
Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions
by: Kevin E. Glinton, et al.
Published: (2019-09-01) -
Methodology Development and Application of Untargeted Metabolomics
by: Ching Lo, et al.
Published: (2019) -
Untargeted Metabolomic Characterization of Ovarian Tumors
by: Xiaona Liu, et al.
Published: (2020-12-01) -
Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment
by: Elsea, S.H, et al.
Published: (2022) -
Variable Selection in Untargeted Metabolomics and the Danger of Sparsity
by: Gerjen H. Tinnevelt, et al.
Published: (2020-11-01)