Associated Papers
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
Kido J et al.
Human Mutation, 2025
Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency.
Wongkittichote P et al.
Journal of Inherited Metabolic Disease, 2013
A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study.
Fiermonte G et al.
Molecular Genetics and Metabolism, 2011
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