Associated Papers
Biochemical Characterization of Disease-Associated Variants of Human Ornithine Transcarbamylase.
Micheloni E et al.
Acs Chemical Biology, 2025
Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
Kido J et al.
American Journal of Medical Genetics. Part A, 2021
Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.
Haskins N et al.
Frontiers in Physiology, 2020
33551825 (PubMed )
Supplement: Data_Sheet_1.zip › SupplementaryData_DataSheet › Supplementary_Tables_S1-S6.xlsx › Table_S4
Highly efficient RNA-guided base editing in rabbit.
Liu Z et al.
Nature Communications, 2018
Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.
Magesh R et al.
3 Biotech, 2014
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
Hyperammonemia in urea cycle disorders: A toxic metabolite for the brain.
Kido J et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
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