Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.

Emerging neurological and cognitive symptoms in patients with late-onset ornithine transcarbamylase deficiency: a narrative review.

Pediatric liver transplantation for inherited metabolic disease-Current challenges.

Clinical heterogeneity, genotype, and neurological outcomes in six Palestinian patients with ornithine transcarbamylase deficiency.

Hyperammonemia-Associated Stroke-Like Episodes and Acute Liver Failure in an 11-Month-Old Infant With Probable Ornithine Transcarbamylase Deficiency: Diagnostic and Therapeutic Challenges in a Resource-Limited Setting.

A Complex Case of Ornithine Transcarbamylase Deficiency in a Patient With Severe Comorbid Conditions.

Analysis of OTC Gene Variations in Early-Onset Ornithine Transcarbamylase Deficiency: A Case Report and Review of the Literature.

Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series.

A multicenter descriptive study of neonatal-onset urea cycle disorder patients hospitalized in level IV NICUs.

Radiation therapy in a ductal carcinoma in situ patient with ornithine transcarbamylase deficiency: a case report.

A Young Man with Late-onset Ornithine Transcarbamylase Deficiency Successfully Treated with Prompt and Intensive Blood Purification Therapy for Severe Hyperammonemic Encephalopathy.

Hyperammonemia in Inherited Metabolic Diseases: A Case Report.

Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations.

Early continuous blood purification and timely liver transplantation in a neonatal-onset ornithine transcarbamylase deficiency: a case report.

Fatal ornithine transcarbamylase deficiency presentation postresection of fourth ventricle ependymoma: illustrative case.

Rebound hyperammonemia triggered by interruption of renal replacement therapy in adolescent ornithine transcarbamylase deficiency.

Development of patient-centric conceptual frameworks for symptoms and impacts of ornithine transcarbamylase deficiency (OTCD).

Two commonly reported incidental variants in OTC are associated with late-onset disease.

Liver transplantation in late-onset ornithine transcarbamylase deficiency with acute liver failure: A case report.

The Current Status of Adult Patients With Urea Cycle Disorders in Japan: From the Nation-Wide Study.

The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives.

Current Treatment Modalities for Urea Cycle Disorders.

Recurrent Male Neonatal Deaths in a Heterozygous X-linked Ornithine Transcarbamylase Deficiency Carrier Pregnant Woman.

[Clinical characteristics and efficacy of glyceryl phenylbutyrate treatment in 20 pediatric patients with urea cycle disorder].

A Case of a Heterozygous Female Patient With Ornithine Transcarbamylase (OTC) Deficiency Successfully Treated by Liver Transplantation in Adulthood.

Clinical characteristics and long-term outcomes of 101 patients with urea cycle disorders in China.

Diagnostic challenges in ornithine transcarbamylase deficiency lacking genetic confirmation: liver biopsy versus human induced pluripotent stem cell technology.

Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review.

The current social status in adult patients with urea cycle disorders in Japan.

Acute hyperammonemic encephalopathy masquerading as postoperative delirium in a patient who underwent lung surgery: a case report.

Perioperative care in pediatric OTC deficiency and goldenhar syndrome: a case report.

Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models.

Hyperammonemic Encephalopathy due to Underlying Ornithine Transcarbamylase Deficiency.

Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

Successful pregnancy in a patient with OTCD using advanced technologies and liver transplant.

Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene.

Maternal health outcomes in ornithine transcarbamylase deficiency: A comparative analysis of pregnancies in symptomatic and asymptomatic heterozygotes.

Biochemical Characterization of Disease-Associated Variants of Human Ornithine Transcarbamylase.

Hyperammonemia induces programmed liver cell death.

Subdural Abscess From Acute Sinusitis in a Patient With Ornithine Transcarbamylase Deficiency.

New Diagnosis of Ornithine Transcarbamylase Deficiency in a 71-Year-Old Man.

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group.

Characterization of a novel conditional knockout mouse model to assess efficacy of mRNA therapy in the context of severe OTC deficiency.

Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates.

[Tandem mass spectrometry screening and genetic analysis of neonates with Urea cycle disorders].

Undiagnosed partial ornithine transcarbamylase deficiency presenting as recurrent hyperammonaemic encephalopathy after capecitabine administration.

Adenoviral Vectors for Gene Therapy of Hereditary Diseases.

Maternal and Newborn Care for Ornithine Transcarbamylase Deficiency.

Strategies for Modifying Adenoviral Vectors for Gene Therapy.

A novel de novo missense OTC mutation in an Iranian girl: a case report.

A Case of Hyperammonemia Not Attributable to Liver Disease and Treated With IV Ammonia Scavengers.

Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China.

Clinical and Genetic Analysis of 8 Children With Ornithine Transcarbamylase Deficiency: Two Novel Mutations.

Exploring RNA therapeutics for urea cycle disorders.

Repeated management of a woman with ornithine transcarbamylase deficiency in two pregnancies.

Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report.

In-depth analysis of OTC A208T case induced by OTC gene mutation and research on the prediction and simulation of the impact on protein function.

Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders.

Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China.

Neonatal Presentation of Ornithine Transcarbamylase Deficiency Associated With a Hypomorphic OTC Variant (p.Leu301Phe) Previously Reported in Later-Onset Disease.

A preliminary retrospective evaluation of screening and diagnosis of ornithine transcarbamylase deficiency in high-risk patients at a referral center in Vietnam.

Sleeping Beauty mRNA-LNP enables stable rAAV transgene expression in mouse and NHP hepatocytes and improves vector potency.

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.

[Treatment of ornithine transcarbamylase deficiency in a child with glyceryl phenylbutyrate].

Corticosteroid-induced hyperammonaemic encephalopathy in a woman with late-onset ornithine transcarbamylase deficiency.

Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.

Severe Sepsis Associated With Multiorgan Failure and Precipitating Nonhepatic Hyperammonemia Crisis in Late-Onset Ornithine Transcarbamylase Deficiency: A Case Report and Literature Review.

Sensory ataxic polyneuropathy unmasking late-onset urea cycle defect.

Encephalopathy After a High-Dose Dexamethasone Suppression Test in a Woman With X-Linked Ornithine Transcarbamylase Deficiency.

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.

Hyperammonemia in a carbamoyl-phosphate synthetase 1 deficiency recipient after living-donor liver transplantation from a carrier donor: a case report.

Follow-up to 'Glycaemic management in a child with ornithine transcarbamylase deficiency undergoing cardiac surgery with hypothermic cardiopulmonary bypass'.

Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.

Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation.

The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.

Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.

Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation.

Hyperammonemia Encephalopathy due to Urea Cycle Disorder Precipitated by Gastrointestinal Bleed in the Setting of Prior Bariatric Surgery.

[Preliminary study of glyceryl phenylbutyrate therapy for Ornithine transcarbamylase deficiency and a literature review].

Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.

Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency.

Phenotypes of undiagnosed adults with actionable OTC and GLA variants.

China nationwide landscape of 16 types inherited metabolic disorders: a retrospective analysis on 372,255 clinical cases.

Lipid nanoparticle-targeted mRNA formulation as a treatment for ornithine-transcarbamylase deficiency model mice.

Anesthesia management protocol for liver transplantation as treatment for ornithine transcarbamylase deficiency.

Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies.

Evaluation of living donors for hereditary liver disease (siblings, heterozygotes).

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem.

[Neonate-onset ornithine transcarbamylase deficiency].

Acute onset of ornithine transcarbamylase deficiency after total anomalous pulmonary venous connection repair to a 2-day-old neonate.

Maternal-fetal outcomes of pregnancies in women treated at an inborn errors of metabolism unit.

[Analysis of OTC gene variants in four children with delayed 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.

Evaluation of oxidative damage to biomolecules and inflammation in patients with urea cycle disorders.

Validation of a targeted metabolomics panel for improved second-tier newborn screening.

Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes.

Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency.

Benefits of tailored disease management in improving tremor, white matter hyperintensities, and liver enzymes in a child with heterozygous X-linked ornithine transcarbamylase deficiency.

Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency.

A complex case of delayed diagnosis of ornithine transcarbamylase deficiency in an adult patient with multiple comorbidities.

A retrograde approach for liver gene transfer.

Imaging of extrapontine myelinolysis preceding central pontine myelinolysis in a case of ornithine transcarbamylase deficiency with hyperammonaemia and hypokalaemia.

Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment.

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.

Marginal parental donors for pediatric living donor liver transplantation.

Severe loss of appetite and refusal to eat as severe side effect of glycerol phenylbutyrate.

Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.

Adeno-associated virus vector-based gene therapies for pediatric diseases.

A simple screening method for heterozygous female patients with ornithine transcarbamylase deficiency.

Surgical approach to supradiaphragmatic inferior vena cava in patients with metallic stent in the hepatic vein during repeat liver transplantation.

Excretion of excess nitrogen and increased survival by loss of SLC6A19 in a mouse model of ornithine transcarbamylase deficiency.

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.

Acute Fulminant Encephalopathy in an Adult due to Ornithine Transcarbamylase Deficiency.

Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father-A peculiar pattern of X-linked recessive inheritance.

Psychological Stress Triggers a Hyperammonemia Episode in Patient with Ornithine Transcarbamylase Deficiency.

Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy.

Liver transplantation in rare late-onset ornithine transcarbamylase deficiency with central nervous system injury: A case report and review of the literature.

Messenger RNA as a personalized therapy: The moment of truth for rare metabolic diseases.

Liver transplantation for late-onset ornithine transcarbamylase deficiency: A case report.

Ornithine Transcarbamylase Deficiency Presenting as Acute Encephalopathy After Strabismus Surgery.

Glycaemic management in a child with ornithine transcarbamylase deficiency undergoing cardiac surgery with hypothermic cardiopulmonary bypass.

Moving towards a novel therapeutic strategy for hyperammonemia that targets glutamine metabolism.

A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency.

Hepatic Encephalopathy Is Not Always due to Liver Cirrhosis.

Ornithine transcarbamylase deficiency: A diagnostic odyssey.

Unmet Needs of Parents of Children with Urea Cycle Disorders.

A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.

Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations.

Case Report: Juvenile Myelomonocytic Leukemia Underlying Ornithine Transcarbamylase Deficiency Safely Treated Using Hematopoietic Stem Cell Transplantation.

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.

Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency.

Refractory Hyperammonemic encephalopathy in Fibrolamellar hepatocellular carcinoma, a case report and literature review.

Prenatal Diagnosis of Two Common Inborn Errors of Metabolism by Genetic and Mass Spectrometric Analysis of Amniotic Fluid.

Prednisolone reduces the interferon response to AAV in cynomolgus macaques and may increase liver gene expression.

Hemizygous deletion in the OTC gene results in ornithine transcarbamylase deficiency: A case report.

Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium.

Hyperammonaemic Encephalopathy Caused by Adult-Onset Ornithine Transcarbamylase Deficiency.

Derivation of healthy hepatocyte-like cells from a female patient with ornithine transcarbamylase deficiency through X-inactivation selection.

Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.

Late-onset ornithine transcarbamylase deficiency mimicking a focal opercular syndrome.

4-Phenylbutyrate protects against rifampin-induced liver injury via regulating MRP2 ubiquitination through inhibiting endoplasmic reticulum stress.

Transient Cortical Blindness in a Toddler With Heterozygous Ornithine Transcarbamylase Deficiency.

Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency.

Placental Pathology in Maternal Ornithine Transcarbamylase Deficiency.

OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies.

Aquaporin 9 induction in human iPSC-derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency.

Late-onset of ornithine transcarbamylase deficiency: A rare medical examiner case.

Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys.

In Silico Analysis of a De Novo OTC Variant as a Cause of Ornithine Transcarbamylase Deficiency.

Differences in faecal microbiome composition between adult patients with UCD and PKU and healthy control subjects.

Creatine metabolism in patients with urea cycle disorders.

Adult-onset ornithine transcarbamylase deficiency as a rare cause of fatal hyperammonaemia.

[Early-onset ornithine transcarbamylase deficiency in a pedigree].

Funneling venoplasty for anomalous graft left hepatic vein in living donor liver transplantation using a split left lateral section graft for an infant patient.

Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan.

Neurotoxic Effects of Ammonia in a Patient With Ornithine Transcarbamylase Deficiency and Bilateral Brain Abscesses: Case Report.

Mycobacterium abscessus infection in a patient with ornithine transcarbamylase deficiency and liver transplant.

Status epilepticus secondary to hyperammonaemia: a late presentation of an undiagnosed urea cycle defect.

Liver Transplantation in Children with Urea Cycle Disorders: The Importance of Minimizing Waiting Time.

Valproate-induced fatal acute hyperammonaemia-related encephalopathy in late-onset ornithine transcarbamylase deficiency.

Review of Multi-Modal Imaging in Urea Cycle Disorders: The Old, the New, the Borrowed, and the Blue.

Cholangiojejunostomy for multiple biliary ducts in living donor liver transplantation: A case report.

Neuromyelitis Optica Complicated by Ornithine Transcarbamylase Deficiency Treated Safely with Pulse Steroid Therapy.

Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.

Physical, cognitive, and social status of patients with urea cycle disorders in Japan.

Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study.

Expanding Role of Proton Magnetic Resonance Spectroscopy: Timely Diagnosis and Treatment Initiation in Partial Ornithine Transcarbamylase Deficiency.

Generation of a human induced pluripotent stem cell line (SDQLCHi036-A) from a patient with ornithine transcarbamylase deficiency carrying a deletion involving 3-9 exons of OTC gene.

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing.

Long-term correction of ornithine transcarbamylase deficiency in Spf-Ash mice with a translationally optimized AAV vector.

Management of late onset urea cycle disorders-a remaining challenge for the intensivist?

Unification venoplasty of the outflow hepatic vein for laparoscopically harvested left liver grafts in pediatric living donor liver transplantation.

Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.

Humanized liver mouse model with transplanted human hepatocytes from patients with ornithine transcarbamylase deficiency.

Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.

An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency.

[Consensus on diagnosis and treatment of ornithine trans-carbamylase deficiency].

The role of orotic acid measurement in routine newborn screening for urea cycle disorders.

Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.

Late-onset ornithine transcarbamylase deficiency: a rare cause of recurrent abnormal behavior in adults.

The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients.

Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study.

Hyperammonemic Encephalopathy Mimicking Ornithine Transcarbamylase Deficiency in Fibrolamellar Hepatocellular Carcinoma: Successful Treatment with Continuous Venovenous Hemofiltration and Ammonia Scavengers.

Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients.

Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations.

Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males.

Chemotherapy in a Breast Cancer Patient Heterozygous Carrier of Ornithine Transcarbamylase Deficiency.

Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency.

Utility of metabolic screening in neurological presentations of infancy.

Neonatal debut of ornithine transcarbamylase deficiency with severe hyperammoniemia.

A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father.

Clinical and genetic analysis of five Chinese patients with urea cycle disorders.

Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature.

Ornithine Transcarbamylase Deficiency Presenting as Acute Liver Failure in Girls: A Paediatric Case Series.

Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.