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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 MA, Li MX, Lu YB, Ushikai M, Tabata A, Moriyama M, Hsiao KJ, Yang Y. Saheki T, et al. Among authors: kobayashi k. Mol Genet Metab. 2004 Apr;81 Suppl 1:S20-6. doi: 10.1016/j.ymgme.2004.01.006. Mol Genet Metab. 2004. PMID: 15050970 Review.
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: kobayashi k. 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
[Molecular basis of citrin deficiency].
Kobayashi K, Saheki T. Kobayashi K, et al. Seikagaku. 2004 Dec;76(12):1543-59. Seikagaku. 2004. PMID: 15675368 Review. Japanese. No abstract available.
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodés M, Wasant P, Yoshida I, De Meirleir L, Abdul Jalil M, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T. Gao HZ, et al. Among authors: kobayashi k. Hum Mutat. 2003 Jul;22(1):24-34. doi: 10.1002/humu.10230. Hum Mutat. 2003. PMID: 12815590
An autopsy case with adult onset type II citrullinemia showing myelopathy.
Tazawa K, Shimojima Y, Okano T, Yazaki M, Takei Y, Shimojo H, Kobayashi K, Saheki T, Ikeda S. Tazawa K, et al. Among authors: kobayashi k. J Neurol Sci. 2007 Feb 15;253(1-2):77-80. doi: 10.1016/j.jns.2006.11.014. Epub 2007 Jan 2. J Neurol Sci. 2007. PMID: 17196992
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