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Takeyori Saheki

Department of Molecular Metabolism and Biochemical Genetics

Kagoshima University Graduate School of Medical and Dental Sciences

Kagoshima

Japan

[email]@*.*.kagoshima-u.ac.jp

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Affiliations

Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan. 2004
Department of Biochemistry, Faculty of Medicine, Kagoshima University, 8-35-1 Sakuragaoka, Japan. 2002

References

Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. Saheki, T., Kobayashi, K., Iijima, M., Horiuchi, M., Begum, L., Jalil, M.A., Li, M.X., Lu, Y.B., Ushikai, M., Tabata, A., Moriyama, M., Hsiao, K.J., Yang, Y. Mol. Genet. Metab. (2004) [Pubmed]
Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). Saheki, T., Kobayashi, K. J. Hum. Genet. (2002) [Pubmed]
Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency. Saheki, T., Kobayashi, K., Iijima, M., Nishi, I., Yasuda, T., Yamaguchi, N., Gao, H.Z., Jalil, M.A., Begum, L., Li, M.X. Metab. Brain. Dis (2002) [Pubmed]