Kobayashi K - Search Results

1

Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center.

Song YZ, Deng M, Chen FP, Wen F, Guo L, Cao SL, Gong J, Xu H, Jiang GY, Zhong L, Kobayashi K, Saheki T, Wang ZN. Song YZ, et al. Among authors: kobayashi k. Int J Mol Med. 2011 Jul;28(1):33-40. doi: 10.3892/ijmm.2011.653. Epub 2011 Mar 21. Int J Mol Med. 2011. PMID: 21424115

2

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: kobayashi k. Int J Mol Med. 2007 Dec;20(6):809-15. Int J Mol Med. 2007. PMID: 17982687

3

[Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype].

Song YZ, Guo L, Yang YL, Han LS, Kobayashi K, Saheki T. Song YZ, et al. Among authors: kobayashi k. Zhongguo Dang Dai Er Ke Za Zhi. 2009 May;11(5):328-32. Zhongguo Dang Dai Er Ke Za Zhi. 2009. PMID: 19470249 Chinese.

4

[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: kobayashi k. Zhonghua Er Ke Za Zhi. 2009 Aug;47(8):624-7. Zhonghua Er Ke Za Zhi. 2009. PMID: 19951499 Chinese.

5

SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.

Song YZ, Zhang ZH, Lin WX, Zhao XJ, Deng M, Ma YL, Guo L, Chen FP, Long XL, He XL, Sunada Y, Soneda S, Nakatomi A, Dateki S, Ngu LH, Kobayashi K, Saheki T. Song YZ, et al. Among authors: kobayashi k. PLoS One. 2013 Sep 19;8(9):e74544. doi: 10.1371/journal.pone.0074544. eCollection 2013. PLoS One. 2013. PMID: 24069319 Free PMC article.

6

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. Saheki T, et al. Among authors: kobayashi k. J Hum Genet. 2002;47(7):333-41. doi: 10.1007/s100380200046. J Hum Genet. 2002. PMID: 12111366 Review.

7

[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.

8

[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: kobayashi k. Zhongguo Dang Dai Er Ke Za Zhi. 2006 Apr;8(2):125-8. Zhongguo Dang Dai Er Ke Za Zhi. 2006. PMID: 16613706 Chinese.

9

Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes.

Tokuhara D, Iijima M, Tamamori A, Ohura T, Takaya J, Maisawa S, Kobayashi K, Saheki T, Yamano T, Okano Y. Tokuhara D, et al. Among authors: kobayashi k. Mol Genet Metab. 2007 Jan;90(1):30-6. doi: 10.1016/j.ymgme.2006.09.009. Epub 2006 Nov 7. Mol Genet Metab. 2007. PMID: 17092749

10

[Progresses and perspectives in the study on citrin deficiency].

Lu YB, Peng F, Li MX, Kobayashi K, Saheki T. Lu YB, et al. Among authors: kobayashi k. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Dec;23(6):655-8. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006. PMID: 17160946 Review. Chinese.

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