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
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
Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.
Wang D et al.
Frontiers in Genetics, 2024
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
Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency.
Wang K et al.
Frontiers in Pediatrics, 2023
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
Tavoulari S et al.
Trends in Endocrinology and Metabolism: Tem, 2022
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 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
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.
Yamaguchi-Kabata Y et al.
Human Genetics, 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
Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child.
Inui A et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2016
Three cases of adult-onset type II citrullinemia treated with different therapies: Efficacy of sodium pyruvate and low-carbohydrate diet.
Kogure T et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2014
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
[A case of neonatal intrahepatic cholestasis caused by citrin deficiency complicated with congenital biliary atresia].
Tong F et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system.
Chen ST et al.
The Journal of Pediatrics, 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
SLC25A13 gene mutations in Taiwanese patients with non-viral hepatocellular carcinoma.
Chang KW et al.
Molecular Genetics and Metabolism, 2011
[SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency].
Wen PQ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2011
The characteristics of food intake in patients with type II citrullinemia.
Nakamura M et al.
Journal of Nutritional Science and Vitaminology, 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
[Neonatal intrahepatic cholestasis caused by citrin deficiency: case report].
Liu ZF et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children.
Ngu HL et al.
The Malaysian Journal of Pathology, 2010
Conventional diet therapy for hyperammonemia is risky in the treatment of hepatic encephalopathy associated with citrin deficiency.
Fukushima K et al.
Internal Medicine (tokyo, Japan), 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
Reduced carbohydrate intake in citrin-deficient subjects.
Saheki T et al.
Journal of Inherited Metabolic Disease, 2008
[Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency].
Song YZ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
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
[SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency].
Song YZ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
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
Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients.
Tazawa Y et al.
Molecular Genetics and Metabolism, 2004
Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.
Saheki T et al.
Metabolic Brain Disease, 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
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.
Yasuda T et al.
Human Genetics, 2000