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.

[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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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?

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

[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].

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.

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.

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

Diabetes mellitus exacerbates citrin deficiency via glucose toxicity.

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.

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.

Adult onset type II citrullinemia--a great masquerader.

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

Early prediction of phenotypic severity in Citrullinemia Type 1.

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

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].

Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms.

Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications.

A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.

A 6-Year-Old Child With Citrin Deficiency and Advanced Hepatocellular Carcinoma.

Adult-onset type II citrullinemia: Current insights and therapy.

Neonatal Lupus Erythematosus in a newborn with Citrullinemia.

Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience.

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

[Analysis of SLC25A13 gene mutations and prenatal diagnosis for 20 families affected with citrin deficiency].

Citrullinemia with an Atypical Presentation: Paroxysmal Hypoventilation Attacks.

High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel.

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.

[Identification of a homozygous ASS1 mutation in a child with citrullinemia type Ⅰ with high-melting curve method].

Hypomorphic citrullinaemia due to mutated ASS1 with episodic ataxia.

Cholesterol Metabolism Is Enhanced in the Liver and Brain of Children With Citrin Deficiency.

Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia.

Diagnosis of citrullinemia type 1 carriage after identification of mild citrullinemia on neonatal screening.

Biochemical markers and neuropsychological functioning in distal urea cycle disorders.

[Analysis of SLC25A13 gene mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency].

p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency.

Sudden development of adult-onset type II citrullinemia after total gastrectomy: a case report.

Analysis of islet beta cell functions and their correlations with liver dysfunction in patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).

Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.

[Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].

Bile acid profiles in neonatal intrahepatic cholestasis caused by citrin deficiency.

Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.

Teaching NeuroImages: Reversible brain MRI lesions in adult-onset type II citrullinemia.

Extracellular vesicles from human liver stem cells restore argininosuccinate synthase deficiency.

First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).

PRMT7 Interacts with ASS1 and Citrullinemia Mutations Disrupt the Interaction.

Corrigendum to "Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs" [Biochem. Biophys. Res. Commun. 486(3) (2017) 613-619].

Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients.

Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs.

Oral aversion to dietary sugar, ethanol and glycerol correlates with alterations in specific hepatic metabolites in a mouse model of human citrin deficiency.

Identification of three novel mutations in fourteen patients with citrullinemia type 1.

Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.

[Citrullinemia type I with recurrent liver failure in a child].