• <em>Ex vivo</em> precision-cut liver slices model disease phenotype and monitor therapeutic response for liver monogenic diseases
• A Case of Acrodermatitis Dysmetabolica in a Child Affected by Citrullinemia Type I: When Early Diagnosis and Timely Treatment Are Not Enough
• A Case of Adult-onset Type II Citrullinemia Developed under Dietary Restrictions during Imprisonment
• A hybrid procedure of living donor liver transplantation for a pediatric patient with citrin deficiency
• A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant
• Adult Onset Episodic Encephalopathy Due to Citrin Deficiency-A Case Report
• Adult-Onset Type 1 Citrullinemia Presenting as Postpartum Acute Liver Failure
• Adult-onset Type II Citrullinemia Developed under Dietary Restrictions during Imprisonment
• Adult-onset type II citrullinemia manifested as hepatosteatosis or steatohepatitis: A report of three Chinese cases
• Amplicon sequencing-based carrier screening for 170 monogenic disorders among children with abnormal LC-MS/MS results
• Amyloidogenic Propensity of Metabolites in the Uric Acid Pathway and Urea Cycle Critically Impacts the Etiology of Metabolic Disorders
• Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants
• Analysis of clinical and genetic variation in neonatal intrahepatic cholestasis caused by citrin deficiency
• Analysis of SLC25A13 gene variants in 16 infants with intrahepatic cholestasis caused by citrin protein deficiency
• Analysis of the serum bile acid profile to facilitate diagnosis and differential diagnosis of NA(+)-taurocholate cotransporting polypeptide deficiency
• Anesthetic Management of a Patient With Citrullinemia Type I During Dental Treatment
• Aspartic Acid in Health and Disease
• ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae
• ASS1 metabolically contributes to the nuclear and cytosolic p53-mediated DNA damage response
• Association Analysis of Gene Sequencing by NeoSeq Combined with Tandem Mass Spectrum and Four Neonatal Diseases
• Asymptomatic ASS1 carriers with high blood citrulline levels
• Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I
• Citrin deficiency due to SLC25A13 exon deletion in a Chinese infant: A case report
• Citrin deficiency-The East-side story
• Citrin Deficiency: Clinical and Nutritional Features
• Citrullinemia and What Else?
• Citrullinemia is a suitable biomarker for post weaning performance in piglets under intensive farming
• Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations
• Citrullinemia type II accompanied by mental derangement combined with multidrug resistance 3 decrease, case report
• Citrullinemia, a rare cause of recurring encephalopathy
• 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
• Clinical characteristics and genetic analysis of neonatal intrahepatic cholestasis caused by citrin deficiency in comparison with idiopathic neonatal cholestasis
• Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data
• Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy
• Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition
• Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan
• Clinical, biochemical, and genotypical characteristics in urea cycle mitochondrial transporter disorders
• Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel <em>ASS1</em> gene mutations
• Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations
• Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia
• Creatine metabolism in patients with urea cycle disorders
• Desflurane and remifentanil anesthesia in a child with citrin deficiency: A case report
• Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
• Domino liver transplantation for maple syrup urine disease in children: A single-center case series
• Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
• Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches
• Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver
• Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey
• Features of liver injury in 138 Chinese patients with NICCD
• Food Preferences of Patients with Citrin Deficiency
• Functional identification of two novel variants and a hypomorphic variant in <em>ASS1</em> from patients with Citrullinemia type I
• Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I
• Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice
• Genetic and clinical features of patients with intrahepatic cholestasis caused by citrin deficiency
• Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism
• Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review
• Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
• Identification of Novel Mutations in Chinese Infants With Citrullinemia
• Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders
• Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test
• Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening
• Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital
• Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China
• Incidence and prevalence of 121 rare diseases in China: Current status and challenges: 2022 revision
• Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
• Lactate-buffered solutions in patients with citrin deficiency
• Lethality rescue and long-term amelioration of a citrullinemia type I mouse model by neonatal gene-targeting combined to SaCRISPR-Cas9
• Managing recurrent portal steal in auxiliary liver transplantation for non-cirrhotic metabolic liver disease
• Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with <em>SLC25A13</em> Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report
• Newborn screening for inborn errors of metabolism in a northern Chinese population
• Newborn screening, clinical features and genetic analysis for Citrin deficiency in Henan province
• Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency
• Not all Patients with Citrullinemia Require Liver Transplant
• Nutritional Management in a Patient with Citrullinemia Type 1
• Nutritional support therapy for liver transplantation in an adult-onset type II citrullinemia patient: a case report
• Pathogenesis and Management of Citrin Deficiency
• Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency
• Physical and neuropsychological development of children with Citrin deficiency
• Pre-conception carrier screening for 21 inherited metabolic diseases in a Chinese population
• Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G > A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series
• Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"><mml:mo>&gt;</mml:mo></mml:math> A mutation of Argininosuccinate synthetase 1 gene in So
• Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder
• Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases
• Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report
• 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
• 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
• Serum procalcitonin as a marker of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
• Severity-adjusted evaluation of liver transplantation on health outcomes in 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
• The diagnostic challenge of mild citrulline elevation at newborn screening
• 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 mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis
• The prognosis of citrin deficiency differs between early-identified newborn and later-onset symptomatic infants
• Transition to glycerol phenylbutyrate for the management of urea cycle disorders: clinical experiences
• Treatment and management for children with urea cycle disorder in chronic stage
• Type 1 citrullinemia patient with Brugada pattern undergoing general anesthesia for dental extractions: A case report
• 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
• Urea(lly) Got Me: An Uncommon Etiology of Peripartum Liver Failure
• Using preimplantation genetic testing for monogenic disease for preventing citrullinemia type 1 transmission