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Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in .
Mol Genet Metab Rep
March 2019
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Urocanic aciduria is caused by a deficiency in the enzyme urocanase (E.C. 4.
View Article and Find Full Text PDFMutations in the urocanase gene UROC1 are associated with urocanic aciduria.
J Med Genet
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Clinical Biochemistry Department, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu, 2, 08950 Esplugues, Barcelona, Spain.
Urocanase is an enzyme in the histidine pathway encoded by the UROC1 gene. This report describes the first putative mutations, p.L70P and p.
View Article and Find Full Text PDF[Urocanic aciduria (urocanase deficiency)].
Ryoikibetsu Shokogun Shirizu
July 1998
Department of Pediatrics, Nagoya City University Medical School.
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