Disease: Ornithine Transcarbamylase Deficiency
- Acute onset of ornithine transcarbamylase deficiency after total anomalous pulmonary venous connection repair to a 2-day-old neonate
- Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation
- Analysis of OTC gene variants in four children with delayed onset Ornithine transcarbamylase deficiency
- Anesthesia management protocol for liver transplantation as treatment for ornithine transcarbamylase deficiency
- Anesthetic Management of the Surgical Correction of Idiopathic Scoliosis in a Teenager With Ornithine Transcarbamalyse Deficiency
- Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database
- China nationwide landscape of 16 types inherited metabolic disorders: a retrospective analysis on 372,255 clinical cases
- Citrulline in the management of patients with urea cycle disorders
- Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre
- Corticosteroid-induced hyperammonaemic encephalopathy in a woman with late-onset ornithine transcarbamylase deficiency
- Delayed recognition of autism spectrum disorder and attention-deficit/hyperactivity disorder in a girl with ornithine transcarbamylase deficiency: A case report
- Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency
- Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022
- Encephalopathy After a High-Dose Dexamethasone Suppression Test in a Woman With X-Linked Ornithine Transcarbamylase Deficiency
- Evaluation of living donors for hereditary liver disease (siblings, heterozygotes)
- Evaluation of oxidative damage to biomolecules and inflammation in patients with urea cycle disorders
- Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease
- Follow-up to 'Glycaemic management in a child with ornithine transcarbamylase deficiency undergoing cardiac surgery with hypothermic cardiopulmonary bypass'
- Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome
- Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency
- Hyperammonemia Encephalopathy due to Urea Cycle Disorder Precipitated by Gastrointestinal Bleed in the Setting of Prior Bariatric Surgery
- Hyperammonemia in a carbamoyl-phosphate synthetase 1 deficiency recipient after living-donor liver transplantation from a carrier donor: a case report
- Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency
- Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders
- Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation
- Lipid nanoparticle-targeted mRNA formulation as a treatment for ornithine-transcarbamylase deficiency model mice
- Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study
- Maternal-fetal outcomes of pregnancies in women treated at an inborn errors of metabolism unit
- Neonate-onset ornithine transcarbamylase deficiency
- Ornithine Transcarbamylase Deficiency
- Phenotypes of undiagnosed adults with actionable <em>OTC</em> and <em>GLA</em> variants
- Preliminary study of glyceryl phenylbutyrate therapy for Ornithine transcarbamylase deficiency and a literature review
- Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies
- Recapitulation of skewed X-inactivation in female OTC-deficient primary human hepatocytes in the FRG mouse: a novel system for developing epigenetic therapies
- Sensory ataxic polyneuropathy unmasking late-onset urea cycle defect
- Severe Sepsis Associated With Multiorgan Failure and Precipitating Nonhepatic Hyperammonemia Crisis in Late-Onset Ornithine Transcarbamylase Deficiency: A Case Report and Literature Review
- Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
- Sleeping Beauty mRNA-LNP enables stable rAAV transgene expression in mouse and NHP hepatocytes and improves vector potency
- The functional impact of 1,570 individual amino acid substitutions in human OTC
- The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey
- The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem
- Treatment and management for children with urea cycle disorder in chronic stage
- Treatment of ornithine transcarbamylase deficiency in a child with glyceryl phenylbutyrate
- Two pregnancies of an ornithine carbamoyltransferase deficiency disease carrier and review of the literature
- Urea cycle disorders and indications for liver transplantation
- Validation of a targeted metabolomics panel for improved second-tier newborn screening
- Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency