Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Biochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency.
Li J et al.
Frontiers in Pediatrics, 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
37047726 (PubMed )
Supplement: ijms-24-06754-s001.zip › ijms-2241907-supplementary › Supplementary_Tables_Figures › Supplementary_Table_S10.xlsx › Citrin_Patients
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
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.
Lin Y et al.
Journal of Inherited Metabolic Disease, 2020
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.
Lin WX et al.
Scientific Reports, 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
High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan.
Lin JT et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Deep phenotyping of patients with citrin deficiency in Singapore- single centre experience.
Yeo M et al.
Molecular Genetics and Metabolism, 0
Identification of 13 novel pathogenic SLC25A13 variants and comparison of the genetic spectrum among different geographic regions: Molecular characterization of a large cohort of citrin deficiency in China.
Cheng RL et al.
Molecular Genetics and Metabolism, 0
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