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Citrin deficiency and current treatment concepts.
Saheki T, Inoue K, Tushima A, Mutoh K, Kobayashi K. Saheki T, et al. Among authors: tushima a. Mol Genet Metab. 2010;100 Suppl 1:S59-64. doi: 10.1016/j.ymgme.2010.02.014. Epub 2010 Feb 24. Mol Genet Metab. 2010. PMID: 20233664
Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency.
Saheki T, Inoue K, Ono H, Tushima A, Katsura N, Yokogawa M, Yoshidumi Y, Kuhara T, Ohse M, Eto K, Kadowaki T, Sinasac DS, Kobayashi K. Saheki T, et al. Among authors: tushima a. Mol Genet Metab. 2011 Dec;104(4):492-500. doi: 10.1016/j.ymgme.2011.08.015. Epub 2011 Aug 19. Mol Genet Metab. 2011. PMID: 21908222