Associated Papers
Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic SLC25A13 Variants.
Jang MA et al.
Annals of Laboratory Medicine, 2025
Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant.
Selamioğlu A et al.
The Turkish Journal of Pediatrics, 2025
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
Kido J et al.
Human Mutation, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.
Hahn JW et al.
Journal of Gastroenterology and Hepatology, 2024
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
Kim MJ et al.
Annals of Laboratory Medicine, 2023
NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells.
Owusu-Ansah M et al.
International Journal of Molecular Sciences, 2023
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
Tavoulari S et al.
Trends in Endocrinology and Metabolism: Tem, 2022
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
Kido J et al.
Journal of Inherited Metabolic Disease, 2022
Desflurane and remifentanil anesthesia in a child with citrin deficiency: A case report.
Kim K et al.
Medicine, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age.
Arai-Ichinoi N et al.
Journal of Inherited Metabolic Disease, 2021
Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report.
Miyamoto R et al.
Bmc Pediatrics, 2021
The Lack of Hepatocyte Steatosis in Adult-onset Type II Citrullinemia Patients as Assessed by 7-year Interval Paired Biopsies.
Suzuki H et al.
Internal Medicine (tokyo, Japan), 2019
Growth impairment in individuals with citrin deficiency.
Numakura C et al.
Journal of Inherited Metabolic Disease, 2019
Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry.
Shigetomi H et al.
International Journal of Neonatal Screening, 2018
Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment.
Nagasaka H et al.
Molecular Genetics and Metabolism, 2017
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.
Togawa T et al.
The Journal of Pediatrics, 2016
Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia.
Hayasaka K et al.
Molecular Genetics and Metabolism Reports, 2014
Screening of SLC25A13 mutation in the Thai population.
Wongkittichote P et al.
World Journal of Gastroenterology, 2013
Patient with adult-onset type II citrullinemia beginning 2 years after operation for duodenal malignant somatostatinoma: Indication for liver transplantation.
Tazawa K et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2013
SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.
Song YZ et al.
Plos One, 2013
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants.
Treepongkaruna S et al.
Bmc Gastroenterology, 2012
Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.
Kikuchi A et al.
Molecular Genetics and Metabolism, 2012
An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene.
Takahashi Y et al.
Internal Medicine (tokyo, Japan), 2012
SLC25A13 gene mutations in Taiwanese patients with non-viral hepatocellular carcinoma.
Chang KW et al.
Molecular Genetics and Metabolism, 2011
Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.
Chew HB et al.
Journal of Inherited Metabolic Disease, 2010
Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor.
Shigeta T et al.
Pediatric Transplantation, 2010
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children.
Ngu HL et al.
The Malaysian Journal of Pathology, 2010
Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period.
Nagasaka H et al.
Molecular Genetics and Metabolism, 2009
Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.
Tabata A et al.
Journal of Human Genetics, 2008
Six cases of citrin deficiency in Korea.
Ko JM et al.
International Journal of Molecular Medicine, 2007
Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants.
Ko JS et al.
Journal of Korean Medical Science, 2007
Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
Ohura T et al.
Journal of Inherited Metabolic Disease, 2007
Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes.
Tokuhara D et al.
Molecular Genetics and Metabolism, 2007
Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants.
Yeh JN et al.
The Journal of Pediatrics, 2006
A case of adult-onset type II citrullinemia--deterioration of clinical course after infusion of hyperosmotic and high sugar solutions.
Takahashi H et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2006
Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13.
Takaya J et al.
Metabolism: Clinical and Experimental, 2005
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.
Lu YB et al.
Journal of Human Genetics, 2005
Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients.
Tazawa Y et al.
Molecular Genetics and Metabolism, 2004
Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency.
Tamamori A et al.
Pediatric Research, 2004
Feasibility of auxiliary partial orthotopic liver transplantation from living donors for patients with adult-onset type II citrullinemia.
Yazaki M et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2004
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.
Sinasac DS et al.
Molecular and Cellular Biology, 2004
Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.
Saheki T et al.
Metabolic Brain Disease, 2002
Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.
Tamamori A et al.
European Journal of Pediatrics, 2002
Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles.
Tanaka T et al.
The Tohoku Journal of Experimental Medicine, 2002