Ushikai M - Search Results

1

Six cases of citrin deficiency in Korea.

Ko JM, Kim GH, Kim JH, Kim JY, Choi JH, Ushikai M, Saheki T, Kobayashi K, Yoo HW. Ko JM, et al. Among authors: ushikai m. Int J Mol Med. 2007 Dec;20(6):809-15. Int J Mol Med. 2007. PMID: 17982687

2

[Citrin deficiency is an important etiology for cholestatic liver disease in children].

Song YZ, Ushikai M, Kobayashi K, Saheki T. Song YZ, et al. Among authors: ushikai m. Zhonghua Er Ke Za Zhi. 2009 Aug;47(8):624-7. Zhonghua Er Ke Za Zhi. 2009. PMID: 19951499 Chinese.

3

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: ushikai m. 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.

4

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.

Lu YB, Kobayashi K, Ushikai M, Tabata A, Iijima M, Li MX, Lei L, Kawabe K, Taura S, Yang Y, Liu TT, Chiang SH, Hsiao KJ, Lau YL, Tsui LC, Lee DH, Saheki T. Lu YB, et al. Among authors: ushikai m. J Hum Genet. 2005;50(7):338-346. doi: 10.1007/s10038-005-0262-8. Epub 2005 Jul 30. J Hum Genet. 2005. PMID: 16059747

5

Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13.

Takaya J, Kobayashi K, Ohashi A, Ushikai M, Tabata A, Fujimoto S, Yamato F, Saheki T, Kobayashi Y. Takaya J, et al. Among authors: ushikai m. Metabolism. 2005 Dec;54(12):1615-9. doi: 10.1016/j.metabol.2005.06.009. Metabolism. 2005. PMID: 16311094

6

[A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency].

Song YZ, Hao H, Ushikai M, Liu GS, Xiao X, Saheki T, Kobayashi K, Wang ZN. Song YZ, et al. Among authors: ushikai m. Zhongguo Dang Dai Er Ke Za Zhi. 2006 Apr;8(2):125-8. Zhongguo Dang Dai Er Ke Za Zhi. 2006. PMID: 16613706 Chinese.

7

[SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency].

Song YZ, Ushikai M, Sheng JS, Iijima M, Kobayashi K. Song YZ, et al. Among authors: ushikai m. Zhonghua Er Ke Za Zhi. 2007 Jun;45(6):408-12. Zhonghua Er Ke Za Zhi. 2007. PMID: 17880783 Chinese.

8

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.

Tabata A, Sheng JS, Ushikai M, Song YZ, Gao HZ, Lu YB, Okumura F, Iijima M, Mutoh K, Kishida S, Saheki T, Kobayashi K. Tabata A, et al. Among authors: ushikai m. J Hum Genet. 2008;53(6):534-545. doi: 10.1007/s10038-008-0282-2. Epub 2008 Apr 5. J Hum Genet. 2008. PMID: 18392553

9

Effects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiency.

Saheki T, Inoue K, Ono H, Katsura N, Yokogawa M, Yoshidumi Y, Furuie S, Kuroda E, Ushikai M, Asakawa A, Inui A, Eto K, Kadowaki T, Sinasac DS, Yamamura K, Kobayashi K. Saheki T, et al. Among authors: ushikai m. Mol Genet Metab. 2012 Nov;107(3):322-9. doi: 10.1016/j.ymgme.2012.07.021. Epub 2012 Aug 2. Mol Genet Metab. 2012. PMID: 22921887

10

Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China.

Song YZ, Li BX, Chen FP, Liu SR, Sheng JS, Ushikai M, Zhang CH, Zhang T, Wang ZN, Kobayashi K, Saheki T, Zheng XY. Song YZ, et al. Among authors: ushikai m. Dig Liver Dis. 2009 Sep;41(9):683-9. doi: 10.1016/j.dld.2008.11.014. Epub 2009 Jan 29. Dig Liver Dis. 2009. PMID: 19185551

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