Associated Papers
Distinct roles for the domains of the mitochondrial aspartate/glutamate carrier citrin in organellar localization and substrate transport.
Tavoulari S et al.
Molecular Metabolism, 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
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 2022
36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1
Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis.
Zeng Q et al.
Frontiers in Pediatrics, 2021
[Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1].
Lin WX et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017
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
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
Select a paper to view details