Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1

Author:

Glinton Kevin E.,Levy Harvey L.,Kennedy Adam D.,Pappan Kirk L.,Elsea Sarah H.

Funder

BCM Department of Molecular & Human Genetics

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference21 articles.

1. A familial disturbance of histidine metabolism;Ghadimi;N. Engl. J. Med.,1961

2. "Disorders of Histidine Metabolism." The Online Metabolic and Molecular Bases of Inherited Disease;Levy Harvey,2014

3. Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics;Fagerberg;Mol. Cell. Proteomics,2014

4. Urocanic aciduria: a defect in the urocanase activity in the liver of a mentally retarded;Yoshida;Tohoku J. Exp. Med.,1971

5. A liver urocanase deficiency;Kalafatic;Metabol. Clin. Exp.,1980

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