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
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
37047726 (PubMed )
Supplement: ijms-24-06754-s001.zip › ijms-2241907-supplementary › Supplementary_Tables_Figures › Supplementary_Table_S10.xlsx › Citrin_Patients
Cancer carrier screening in the general population using whole-genome sequencing.
Chang YS et al.
Cancer Medicine, 2023
35861108 (PubMed )
Supplement: CAM4-12-1972-s007.xlsx › Table_S6
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
Tavoulari S et al.
Trends in Endocrinology and Metabolism: Tem, 2022
35725541 (PubMed )
Supplement: EMS164660-supplement-Supplementary_Material.docx
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.
Lin Y et al.
Journal of Inherited Metabolic Disease, 2020
A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing.
Liu G et al.
Gene, 2014
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
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
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