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
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
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
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.
Togawa T et al.
The Journal of Pediatrics, 2016
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 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
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
Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes.
Tokuhara D et al.
Molecular Genetics and Metabolism, 2007
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