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Page 1
Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment.
Nagasaka H, Komatsu H, Inui A, Nakacho M, Morioka I, Tsukahara H, Kaji S, Hirayama S, Miida T, Kondou H, Ihara K, Yagi M, Kizaki Z, Bessho K, Kodama T, Iijima K, Saheki T, Yorifuji T, Honda A. Nagasaka H, et al. Among authors: saheki t. Mol Genet Metab. 2017 Mar;120(3):207-212. doi: 10.1016/j.ymgme.2016.12.011. Epub 2016 Dec 24. Mol Genet Metab. 2017. PMID: 28041819
Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period.
Nagasaka H, Okano Y, Tsukahara H, Shigematsu Y, Momoi T, Yorifuji J, Miida T, Ohura T, Kobayashi K, Saheki T, Hirano K, Takayanagi M, Yorifuji T. Nagasaka H, et al. Among authors: saheki t. Mol Genet Metab. 2009 May;97(1):21-6. doi: 10.1016/j.ymgme.2009.01.009. Epub 2009 Jan 25. Mol Genet Metab. 2009. PMID: 19232506
Reduced carbohydrate intake in citrin-deficient subjects.
Saheki T, Kobayashi K, Terashi M, Ohura T, Yanagawa Y, Okano Y, Hattori T, Fujimoto H, Mutoh K, Kizaki Z, Inui A. Saheki T, et al. J Inherit Metab Dis. 2008 Jun;31(3):386-94. doi: 10.1007/s10545-008-0752-x. Epub 2008 Apr 14. J Inherit Metab Dis. 2008. PMID: 18415701
Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients.
Tazawa Y, Kobayashi K, Abukawa D, Nagata I, Maisawa S, Sumazaki R, Iizuka T, Hosoda Y, Okamoto M, Murakami J, Kaji S, Tabata A, Lu YB, Sakamoto O, Matsui A, Kanzaki S, Takada G, Saheki T, Iinuma K, Ohura T. Tazawa Y, et al. Among authors: saheki t. Mol Genet Metab. 2004 Nov;83(3):213-9. doi: 10.1016/j.ymgme.2004.06.018. Mol Genet Metab. 2004. PMID: 15542392
Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency.
Tamamori A, Fujimoto A, Okano Y, Kobayashi K, Saheki T, Tagami Y, Takei H, Shigematsu Y, Hata I, Ozaki H, Tokuhara D, Nishimura Y, Yorifuji T, Igarashi N, Ohura T, Shimizu T, Inui K, Sakai N, Abukawa D, Miyakawa T, Matsumori M, Ban K, Kaneko H, Yamano T. Tamamori A, et al. Among authors: saheki t. Pediatr Res. 2004 Oct;56(4):608-14. doi: 10.1203/01.PDR.0000139713.64264.BC. Epub 2004 Aug 4. Pediatr Res. 2004. PMID: 15295082
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. 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
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. 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.
311 results