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

Looking Beyond Severe Hypertriglyceridemia when Diagnosing Adult-Onset Citrullinemia Type II.

Dual rare genetic variants: case report of a child with SBIDDS syndrome and citrullinemia type 1.

[Guidelines for the diagnosis, treatment, and management of Citrin deficiency (2026 Edition)].

[A 71-year-old woman with adult-onset type II citrullinemia, initially presenting with normal blood ammonia levels].

PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review.

Developing an explainable machine learning model to predict false-negative citrin deficiency cases in newborn screening.

Identification of 13 novel pathogenic SLC25A13 variants and comparison of the genetic spectrum among different geographic regions: Molecular characterization of a large cohort of citrin deficiency in China.

Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids.

The status of adult patients with citrin deficiency in Japan: A report from the nation-wide study.

Case Report: From coma to genetic insights: identification of a novel pathogenic variant in Chinese neonatal CTLN1.

Deep phenotyping of patients with citrin deficiency in Singapore- single centre experience.

99 Chinese ASS1 carriers: Genetics, metabolism, and citrulline levels.

Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant.

Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical features, genetic characteristics, and treatment outcomes.

Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic SLC25A13 Variants.

Early-Onset Inherited Metabolic Diseases: When Clinical Symptoms Precede Newborn Screening-Insights from Emilia-Romagna (Italy).

Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.

Dietary Glyceryl Polyethylene Glycol Ricinoleate as an Additive to Improve Intestinal Health in Post-Weaning Piglets.

Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency.

Developing splice-switching oligonucleotides for urea cycle disorder using an integrated diagnostic and therapeutic platform.

Retrospective review of urine organic acids data from patients with citrullinemia type I - Looking for the 'cyclic derivative of citrulline'.

Markedly Elevated Citrulline in a Neonate: Citrin Deficiency due to a Previously Unreported Solute Carrier Family 25 Member 13 Variant.

Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines.

Visualization of argininosuccinate synthetase by in silico analysis: novel insights into citrullinemia type I disorders.

Long-term follow-up of neurocognitive function in patients with citrin deficiency and cholestasis.

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

My path to citrin deficiency.

Exploring RNA therapeutics for urea cycle disorders.

[Analysis of the etiology and clinical indicators of infantile cholestasis].

[Full-cycle, multidisciplinary and systematic management of citrin deficiency].

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

Unveiling genetic variants: Tetra-primer ARMS-PCR diagnosis and structural insights into BLAD, BC, and DUMPS in Pakistani cattle herds.

Using preimplantation genetic testing for monogenic disease for preventing citrullinemia type 1 transmission.

The therapeutic landscape of citrin deficiency.

Citrin deficiency-The East-side story.

Rare Pathogenic Variants in Pooled Whole-Exome Sequencing Data Suggest Hyperammonemia as a Possible Cause of Dementia Not Classified as Alzheimer's Disease or Frontotemporal Dementia.

ASS1 metabolically contributes to the nuclear and cytosolic p53-mediated DNA damage response.

Serum procalcitonin as a marker of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).

Nutritional support therapy for liver transplantation in an adult-onset type II citrullinemia patient: a case report.

Ex vivo precision-cut liver slices model disease phenotype and monitor therapeutic response for liver monogenic diseases.

Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.

Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder.

[Newborn screening, clinical features and genetic analysis for Citrin deficiency in Henan province].

Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.

Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.

Clinical, biochemical, and genotypical characteristics in urea cycle mitochondrial transporter disorders.

Update on the diagnosis and management of neonatal intrahepatic cholestasis caused by citrin deficiency: Expert review on behalf of the Asian Pan-Pacific Society for Pediatric Gastroenterology, Hepatology, and Nutrition.

Amyloidogenic Propensity of Metabolites in the Uric Acid Pathway and Urea Cycle Critically Impacts the Etiology of Metabolic Disorders.

Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.

ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.

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

Citrin deficiency due to SLC25A13 exon deletion in a Chinese infant: A case report.

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

Transition to glycerol phenylbutyrate for the management of urea cycle disorders: clinical experiences.

Citrullinemia type II accompanied by mental derangement combined with multidrug resistance 3 decrease, case report.

Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I.

[Analysis of clinical and genetic variation in neonatal intrahepatic cholestasis caused by citrin deficiency].

Adult Onset Episodic Encephalopathy Due to Citrin Deficiency-A Case Report.

Pathogenesis and Management of Citrin Deficiency.

Role of genetic introgression in introducing mutant alleles in Bos indicus cattle and prevalence of lethal genetic disorders in Bos taurus × Bos indicus and Bos indicus cattle in India.

Features of liver injury in 138 Chinese patients with NICCD.

[Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I].

Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency.

[Analysis of the serum bile acid profile to facilitate diagnosis and differential diagnosis of NA(+)-taurocholate cotransporting polypeptide deficiency].

Citrullinemia and What Else?

Treatment and management for children with urea cycle disorder in chronic stage.

Aspartic Acid in Health and Disease.

A Case of Acrodermatitis Dysmetabolica in a Child Affected by Citrullinemia Type I: When Early Diagnosis and Timely Treatment Are Not Enough.

Lethality rescue and long-term amelioration of a citrullinemia type I mouse model by neonatal gene-targeting combined to SaCRISPR-Cas9.

Association Analysis of Gene Sequencing by NeoSeq Combined with Tandem Mass Spectrum and Four Neonatal Diseases.

Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.

Domino liver transplantation for maple syrup urine disease in children: A single-center case series.

Type 1 citrullinemia patient with Brugada pattern undergoing general anesthesia for dental extractions: A case report.

Adult-onset Type II Citrullinemia Developed under Dietary Restrictions during Imprisonment.

Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I.

Citrin Deficiency: Clinical and Nutritional Features.

A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant.

Genetic and clinical features of patients with intrahepatic cholestasis caused by citrin deficiency.

The prognosis of citrin deficiency differs between early-identified newborn and later-onset symptomatic infants.

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.

Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver.

Citrullinemia is a suitable biomarker for post weaning performance in piglets under intensive farming.

Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency.

Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report.

Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G > A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series.

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.

A hybrid procedure of living donor liver transplantation for a pediatric patient with citrin deficiency.

Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.

Newborn screening for inborn errors of metabolism in a northern Chinese population.

The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis.

Amplicon sequencing-based carrier screening for 170 monogenic disorders among children with abnormal LC-MS/MS results.

Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.

Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review.

Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice.

Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.

Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations.

Incidence and prevalence of 121 rare diseases in China: Current status and challenges: 2022 revision.

Citrullinemia, a rare cause of recurring encephalopathy.

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

Managing recurrent portal steal in auxiliary liver transplantation for non-cirrhotic metabolic liver disease.

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.

Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test.

Asymptomatic ASS1 carriers with high blood citrulline levels.

Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.

Urea(lly) Got Me: An Uncommon Etiology of Peripartum Liver Failure.

Not all Patients with Citrullinemia Require Liver Transplant.

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

Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations.

Adult-onset type II citrullinemia manifested as hepatosteatosis or steatohepatitis: A report of three Chinese cases.

[Pre-conception carrier screening for 21 inherited metabolic diseases in a Chinese population].

Identification of Novel Mutations in Chinese Infants With Citrullinemia.

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

The diagnostic challenge of mild citrulline elevation at newborn screening.

Desflurane and remifentanil anesthesia in a child with citrin deficiency: A case report.

Lactate-buffered solutions in patients with citrin deficiency.

Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.

[Analysis of SLC25A13 gene variants in 16 infants with intrahepatic cholestasis caused by citrin protein deficiency].

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

Physical and neuropsychological development of children with Citrin deficiency.

Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia.

Clinical characteristics and genetic analysis of neonatal intrahepatic cholestasis caused by citrin deficiency in comparison with idiopathic neonatal cholestasis.

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with SLC25A13 Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report.

Anesthetic Management of a Patient With Citrullinemia Type I During Dental Treatment.

Food Preferences of Patients with Citrin Deficiency.

Adult-Onset Type 1 Citrullinemia Presenting as Postpartum Acute Liver Failure.

Creatine metabolism in patients with urea cycle disorders.

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.

Nutritional Management in a Patient with Citrullinemia Type 1.

[Citrin deficiency – pathogenesis, clinical and biochemical manifestation, diagnostics, treatment].

Hyperammonemic Encephalopathy in an Adolescent Patient of Citrullinemia Type 1 With an Atypical Presentation.

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

Cytosolic Delivery of Argininosuccinate Synthetase Using a Cell-Permeant Miniature Protein.

In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13.

Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report.

Saccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia.

Peritoneal dialysis in the emergency management of severe neonatal hyperammonemia secondary to citrullinemia type 1.

Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age.

Naturally-occurring spinosyn A and its derivatives function as argininosuccinate synthase activator and tumor inhibitor.

Hemostatic rebalance in neonatal intrahepatic cholestasis with citrin deficiency.

Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia.

[A case of adult-onset type II citrullinemia triggered by entering a nursing home with a good response to medium-chain triglyceride oil therapy].

Outcome of Liver Transplantation for Neonatal-onset Citrullinemia Type I.

Protective effect of resveratrol on citrullinemia type I-induced brain oxidative damage in male rats.

Therapeutic targeting of argininosuccinate synthase 1 (ASS1)-deficient pulmonary fibrosis.

[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis].

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

[A case of misdiagnosed adult-onset type Ⅱ citrullinemia].

Citrin deficiency: Early severe cases in a European country.

SARS CoV2 infection in a young subject affected by arginosuccinate synthase deficiency: A case report of epilepsy worsening.

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.

Organoids to model liver disease.

Effects of resveratrol on alterations in cerebrum energy metabolism caused by metabolites accumulated in type I citrullinemia in rats.

Citrin deficiency mimicking mitochondrial depletion syndrome.

Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK.

High Blood Pressure in a Urea Cycle Disorder: Case Report.

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn.

Hypoketotic hypoglycemia in citrin deficiency: a case report.

Urea Cycle Disorders: A Neuroimaging Pattern Approach Using Diffusion and FLAIR MRI.

Gut Alterations in Septic Patients: A Biochemical Literature Review.

Metabolic basis and treatment of citrin deficiency.

AGC2 (Citrin) Deficiency-From Recognition of the Disease till Construction of Therapeutic Procedures.

Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma.

Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil.

A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I.

Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.

Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations.

Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls.

A Somnolent Neonate With Hypothermia and Posturing.

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Diabetes mellitus exacerbates citrin deficiency via glucose toxicity.

Percutaneous removal of biliary stones post-liver transplant in a pediatric patient: Case report and review of the literature.

Genetic Analysis of Peroxisomal Genes Required for Longevity in a Yeast Model of Citrin Deficiency.

Successful treatment of adult-onset type II citrullinemia with a low-carbohydrate diet and L-arginine after DNA analysis produced a definitive diagnosis.

Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.

Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13.

Case 2: A 2-month-old Girl with Liver Failure and a Brother with Tyrosinemia Type I.

Detection of homozygous genotypes for a putatively lethal recessive mutation in the porcine argininosuccinate synthase 1 (ASS1) gene.

The genetic landscape of the human solute carrier (SLC) transporter superfamily.

Serum bile acids profiling by liquid chromatography-tandem mass spectrometry (LC-MS/MS) and its application on pediatric liver and intestinal diseases.

[Newborn screening program and blood amino acid profiling in early neonates with citrin deficiency].

Adult onset type II citrullinemia--a great masquerader.

Robust, Long-Term Culture of Endoderm-Derived Hepatic Organoids for Disease Modeling.

[Analysis of inborn error metabolism in 277 children with autism spectrum disorders from Hainan].

Early prediction of phenotypic severity in Citrullinemia Type 1.

The mitochondrial carrier Citrin plays a role in regulating cellular energy during carcinogenesis.

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.

Late-Onset Citrullinemia Type I: A Radiological Mimic of Herpes Encephalitis.

Chronic pancreatitis and pancreatic pseudocyst with adult-onset type II citrullinemia.

Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2.

Epidemiology of rare diseases detected by newborn screening in the Czech Republic.

Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.

mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency.

Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model.

Citrullinemia Type 1: Behavioral Improvement with Late Liver Transplantation.

The Lack of Hepatocyte Steatosis in Adult-onset Type II Citrullinemia Patients as Assessed by 7-year Interval Paired Biopsies.

Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry.

Growth impairment in individuals with citrin deficiency.

[A novel SLC25A13 variant and the resultant aberrant transcript identified in a pedigree affected with citrin deficiency].