From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family.

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

Elevated cerebrospinal fluid 2-Hydroxybutyric acid in two siblings with aspartate-glutamate carrier 1 deficiency.

Glycerol-3-phosphate activates ChREBP, FGF21 transcription and lipogenesis in citrin deficiency.

Challenges in dietary management: a qualitative study on caregivers of preschool and school-age children with citrin deficiency.

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.

Bile Duct Paucity in a Case of Neonatal Intrahepatic Cholestasis Due to Citrin Deficiency: Finding the Missing Piece of the Puzzle!

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

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

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.

Prevalence of common autosomal recessive and X-linked conditions in pregnant women in Vietnam: a cross-sectional study.

Metabolic profiles and prediction of failure to thrive of citrin deficiency with normal liver function based on metabolomics and machine learning.

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

Urea cycle defects in adulthood: clinical presentation, diagnosis and treatment in genetically encoded hepatic metabolic disorders with a potential for encephalopathy.

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.

Biochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency.

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.

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.

ω-Amidase and Its Substrate α-Ketoglutaramate (the α-Keto Acid Analogue of Glutamine) as Biomarkers in Health and Disease.

Solving a diagnostic challenge with nanopore long-read sequencing: a novel Alu element exonic insertion with false positive MLPA finding in SLC25A13 for citrin deficiency.

Exploring RNA therapeutics for urea cycle disorders.

Distinct roles for the domains of the mitochondrial aspartate/glutamate carrier citrin in organellar localization and substrate transport.

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

The therapeutic landscape of citrin deficiency.

Citrin deficiency-The East-side story.

Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders.

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

A rare case report: multiple intrahepatic masses in a pediatric patient with citrin deficiency.

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

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

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

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

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

Hyperammonemia and inborn errors of metabolism.

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.

Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.

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

[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.

Features of liver injury in 138 Chinese patients with NICCD.

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].

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

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

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

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.

Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency.

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

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.

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.

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.

Dynamic changes of metabolic characteristics in neonatal intrahepatic cholestasis caused by citrin deficiency.

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

Obstacles to home-based dietary management for caregivers of children with citrin deficiency: a qualitative study.

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.

Application of the Artificial Intelligence Algorithm Model for Screening of Inborn Errors of Metabolism.

[Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids].

Rare liver diseases are not rare in China.

Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.

The diagnostic challenge of mild citrulline elevation at newborn screening.

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

Usefulness of serum BUN or BUN/creatinine ratio as markers for citrin deficiency in positive cases of newborn screening.

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].

Physical and neuropsychological development of children with Citrin deficiency.

Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.

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.

Food Preferences of Patients with Citrin Deficiency.

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

Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China.

Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing.

Citrin deficiency: Does the reactivation of liver aralar-1 come into play and promote HCC development?

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

Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis.

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

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.

Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia.

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

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

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.

Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency: In vivo and in vitro studies of the aberrant transcription arising from two novel splice-site variants in SLC25A13.

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

Citrin deficiency: Early severe cases in a European country.

Citrin deficiency mimicking mitochondrial depletion syndrome.

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

Update of a colorimetric method for quantitative determination of galactose in blood samples: A simple and rapid method for the early detection of inherited metabolic diseases.

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

Hypoketotic hypoglycemia in citrin deficiency: a case report.

Metabolic basis and treatment of citrin deficiency.

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

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

Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls.

Diabetes mellitus exacerbates citrin deficiency via glucose toxicity.

Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.

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.

Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases.

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

A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children?

Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: a case report.

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

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

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.

IVC angioplasty using an autologous vascular graft for IVC stenosis due to metallic stent in a pediatric liver transplant.

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

Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.

Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.

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

Growth impairment in individuals with citrin deficiency.

Bioinformatic and functional analysis of promoter region of human SLC25A13 gene.

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

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

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

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

Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong.

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

Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.

SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations.

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.

[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.

Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry.

Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele.

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

[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.

[Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia].

Liver involvement in urea cycle disorders: a review of the literature.

Citrin deficiency: A rare but important metabolic disorder to consider in infants with faltering growth and hyperbilirubinaemia.

[Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1].

Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine.

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

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

Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment.

Effectiveness of Medium-Chain Triglyceride Oil Therapy in Two Japanese Citrin-Deficient Siblings: Evaluation Using Oral Glucose Tolerance Tests.

[Value of albumin in diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency].

The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism.

Biochemical and molecular characteristics of citrin deficiency in Korean children.

SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency.

Anesthetic experience of an adult male with citrullinemia type II: a case report.

A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.

[Analysis of clinical features and SLC25A13 gene mutations in a family affected with neonatal intrahepatic cholestasis].

Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.

Idiopathic eruptive macular pigmentation in a child with citrin deficiency.

Case report: An adult-onset type II citrin deficiency patient in the emergency department.

Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study.

Malfunction in Mitochondrial β-Oxidation Contributes to Lipid Accumulation in Hepatocyte-Like Cells Derived from Citrin Deficiency-Induced Pluripotent Stem Cells.

Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.

CITRIN DEFICIENCY: AN INFANT INCIDENTALLY DETECTED BY PHENYLKETONURIA SCREENING WITH A NOVEL MUTATION IN SLC25A13 GENE.

Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant.

An Adolescent Case of Citrin Deficiency With Severe Anorexia Mimicking Anorexia Nervosa.

Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child.

Citrin deficiency presenting as acute liver failure in an eight-month-old infant.

[Treatment and Pathomechanism of Citrin Deficiency].

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Differentiated from Biliary Atresia.

Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiency.

Citrin deficiency: A treatable cause of acute psychosis in adults.

Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.