Abstract
Citrin is a mitochondrial aspartate/glutamate carrier whose deficiency causes adult-onset type II citrullinemia (CTLN2; OMIM #603471) and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD; OMIM #605814).
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Saheki, T. et al. (2003). Citrin deficiency. In: Jones, E.A., Meijer, A.J., Chamuleau, R.A.F.M. (eds) Encephalopathy and Nitrogen Metabolism in Liver Failure. Springer, Dordrecht. https://doi.org/10.1007/978-94-010-0159-5_4
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DOI: https://doi.org/10.1007/978-94-010-0159-5_4
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