Associated Papers
Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant.
Selamioğlu A et al.
The Turkish Journal of Pediatrics, 2025
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
Kido J et al.
Human Mutation, 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
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Bijarnia-Mahay S et al.
Orphanet Journal of Rare Diseases, 2018
30285816 (PubMed )
Supplement: 13023_2018_908_MOESM1_ESM.xlsx › Sheet1
CITRIN DEFICIENCY: AN INFANT INCIDENTALLY DETECTED BY PHENYLKETONURIA SCREENING WITH A NOVEL MUTATION IN SLC25A13 GENE.
Zeybek AC et al.
Genetic Counseling (geneva, Switzerland), 2015
Citrin deficiency: A treatable cause of acute psychosis in adults.
Bijarnia-Mahay S et al.
Neurology India, 0
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