1Tabata A, Sheng JS, Ushikai M, Song YZ, Gao HZ, et al. (2008) Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency. J Hum Genet 53: 534-545.
2Kobayashi K, Shaheen N, Kumashiro R, Tanikawa K, O'Brien WE, et al. (1993) A search for the primary abnormality in adult-onset type II citrullinemia. Am J Hum Genet 53: 1024-1030.
3Nagata N, Matsuda I, Oyanagi K (1991) Estimated frequency of urea cycle enzymopathies in Japan. Am J Med Genet 39: 228-229.
4Shigematsu Y, Hirano S, Hata I, Tanaka Y, Sudo M, et al. (2002) Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan. J Chromatogr B Analyt Technol Biomed Life Sci 776: 39-48.
5Hachisu M, Oda Y, Goto M, Kobayashi K, Saheki T, et al. (2005) Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood. Eur J Pediatr 164: 109-110.
6Tomomasa T, Kobayashi K, Kaneko H, Shimura H, Fukusato T, et al. (2001) Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy. J Pediatr 138: 741-743.
7Mutoh K, Kurokawa K, Kobayashi K, Saheki T (2008) Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate. J Inherit Metab Dis 31 : S343-S347.
8Akaboshi I, Endo F, Matsuda I, Saheki T (1983) Kinetic analysis of argininosuccinate synthetase in a variant form of citrullinaemia. J Inher Metab Dis 6: 36-39.
9Hagiwara N, Sekijima Y, Takei Y, Ikeda S, Kawasaki S, Et al. (2003) Hepatocellular carcinoma in a case of adult-onset type II citrullinemia, Intern Med 42: 978-982.
10Iijima M, Jalil A, Begum L, Yasuda T, Yamaguchi N, et al. (2001) Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: tissue and subcellular localization of citrin. Adv Enzyme Regul 41: 325-342.
11Imamura Y, Kobayashi K, Shibatou T, Aburada S, Tahara K, et al. (2003) Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease. Hepatol Res 26: 68-72.
12Ishikawa F, Nakamuta M, Kato M, Iwamoto H, Enjoji M, et al. (2000) Reversibility of serum NH3 level in a case of sudden onset and rapidly progressive case of type 2 citrullinemia. Intern Med 39: 925- 929.
13Ito T, Shiraki K, Sekoguchi K, Yamanaka T, Sugimoto K, et al. (2000) Hepatocellular carcinoma associated with adult-type citrullinemia. Digestive Diseases and Sciences 45: 2203-2206.
14Sato T, Hashimoto Y, Doi H, Okamoto K, Kukita I, et al. (1999) A case of adult-onset citrullinemia associated with severe brain edema following alcohol consumption. Kumamoto Medical Journal 46: 27-31.
15Takahashi H, Kagawa T, Kobayashi K, Hirabayashi H, Yui M, et al. (2006) A case of adult-onset type II citrullinemia deterioration of clinical course after infusion of hyperosmotic and high sugar solutions. Med Sci Monit 12: CS13-CS15.
16Yazaki M, Takei Y, Kobayashi K, Saheki T, Ikeda S, et al. (2005) Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2). Internal medicine 44: 188-195.
17 Eriguchi Y, Yamasue H, Doi N, Nishida T, Abe O, et al. (2010) A case of adult-onset type II citrullinemia with comorbid epilepsy even after liver transplantation. Epilepsia 51: 2484-2487.
18Yazaki M, Hineno A, Matsushima A, Ozawa K, Kishida D, et al. (2012) First two cases of adult-onset type II citrullinemia successfully treated by deceased-donor liver transplantation in Japan. Hepatol Res 42: 934-939.
19Saheki T, Kobayashi K, Terashi M, Ohura T, Yanagawa Y, et al. (2008) Reduced carbohydrate intake in citrin-deficient subjects. J Inherit Metab Dis 31: 386-394.
20Nakamura M, Yazaki M, Kobayashi Y, Fukushima K, Ikeda S, et al. (2011) The characteristics of food intake in patients with type II citrullinemia. J Nutr Sci Vitaminol (Tokyo) 57: 239-245.
21Kikuya M, Miyashita M, Yamanaka C, Ishikuro M, Sato Y, et al. (2015) Protocol and Research Perspectives of the ToMMo Child Health Study after the 2011 Great East Japan Earthquake. Tohoku J Exp Med 236: 123-130.
22Kuriyama S, Yaegashi N, Nagami F, Arai T, Kawaguchi Y, et al. (2016) The Tohoku Medical Megabank Project: Design and Mission. J Epidemiol 26: 493-511.
23Zeng HS, Lin WX, Zhao ST, Zhang ZH, Yang HW, et al. (2016) SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency. Mol Med Rep 14: 5189-5194.
24Saheki T, Kobayashi K (2002) Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J Hum Genet 47: 333-341.
25Kikuchi A, Arai-Ichinoi N, Sakamoto O, Matsubara Y, Saheki T, et al. (2012) Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13. Mol Genet Metab 105: 553-558.
26Tokuhara D, Iijima M, Tamamori A, Ohura T, Takaya J, et al. (2007) Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes. Mol Genet Metab 90: 30-36.