Associated Papers
Two commonly reported incidental variants in OTC are associated with late-onset disease.
Lang SH et al.
Hgg Advances, 2026
Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review.
Przybycień A et al.
Postepy Psychiatrii Neurologii, 2025
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP et al.
The New England Journal of Medicine, 2024
Secondary genomic findings in the 2020 China Neonatal Genomes Project participants.
Xiao H et al.
World Journal of Pediatrics : Wjp, 2022
Late-onset ornithine transcarbamylase deficiency mimicking a focal opercular syndrome.
Donlon E et al.
Practical Neurology, 2022
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.
Haskins N et al.
Frontiers in Physiology, 2020
Hyperammonemia: What Urea-lly Need to Know: Case Report of Severe Noncirrhotic Hyperammonemic Encephalopathy and Review of the Literature.
Upadhyay R et al.
Case Reports in Medicine, 2016
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.
Sun B et al.
Computational and Mathematical Methods in Medicine, 2015
Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.
Magesh R et al.
3 Biotech, 2014
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
Cavicchi C et al.
Orphanet Journal of Rare Diseases, 2014
Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency.
Thurlow VR et al.
Annals of Clinical Biochemistry, 2010
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.
Calvas P et al.
Human Mutation, 1998
The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.
Tuchman M et al.
Journal of Inherited Metabolic Disease, 1998
Ornithine transcarbamylase deficiency: new sites with increased probability of mutation.
Oppliger Leibundgut EO et al.
Human Genetics, 1995