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
Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency.
Lacabanne D et al.
Journal of Inherited Metabolic Disease, 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
Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders.
Okano M et al.
Molecular Genetics and Metabolism Reports, 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
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
Tavoulari S et al.
Trends in Endocrinology and Metabolism: Tem, 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
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
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.
Hayasaka K et al.
Journal of Inherited Metabolic Disease, 2018
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
Screening of SLC25A13 mutation in the Thai population.
Wongkittichote P et al.
World Journal of Gastroenterology, 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
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
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 (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
Reduced carbohydrate intake in citrin-deficient subjects.
Saheki T et al.
Journal of Inherited Metabolic Disease, 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
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
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
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
Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.
Yamaguchi N et al.
Human Mutation, 2002