Saheki T - Search Results

1

Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency.

Zhang ZH, Yang ZG, Chen FP, Kikuchi A, Liu ZH, Kuang LZ, Li WM, Song YZ, Kure S, Saheki T. Zhang ZH, et al. Among authors: saheki t. Tohoku J Exp Med. 2014 Aug;233(4):275-81. doi: 10.1620/tjem.233.275. Tohoku J Exp Med. 2014. PMID: 25110155 Free article.

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

3

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: saheki t. 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

4

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.

Kikuchi A, Arai-Ichinoi N, Sakamoto O, Matsubara Y, Saheki T, Kobayashi K, Ohura T, Kure S. Kikuchi A, et al. Among authors: saheki t. Mol Genet Metab. 2012 Apr;105(4):553-8. doi: 10.1016/j.ymgme.2011.12.024. Epub 2012 Jan 8. Mol Genet Metab. 2012. PMID: 22277121

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: saheki t. 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

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: saheki t. 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

7

[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: saheki t. Zhongguo Dang Dai Er Ke Za Zhi. 2009 May;11(5):328-32. Zhongguo Dang Dai Er Ke Za Zhi. 2009. PMID: 19470249 Chinese.

8

Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiency.

Moriyama M, Fujimoto Y, Rikimaru S, Ushikai M, Kuroda E, Kawabe K, Takano K, Asakawa A, Inui A, Eto K, Kadowaki T, Sinasac DS, Okano Y, Yazaki M, Ikeda S, Zhang C, Song YZ, Sakamoto O, Kure S, Mitsubuchi H, Endo F, Horiuchi M, Nakamura Y, Yamamura K, Saheki T. Moriyama M, et al. Among authors: saheki t. Biochim Biophys Acta. 2015 Sep;1852(9):1787-95. doi: 10.1016/j.bbadis.2015.04.023. Epub 2015 May 5. Biochim Biophys Acta. 2015. PMID: 25952905 Free article.

9

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

10

Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease.

Komatsu M, Yazaki M, Tanaka N, Sano K, Hashimoto E, Takei Y, Song YZ, Tanaka E, Kiyosawa K, Saheki T, Aoyama T, Kobayashi K. Komatsu M, et al. Among authors: saheki t. J Hepatol. 2008 Nov;49(5):810-20. doi: 10.1016/j.jhep.2008.05.016. Epub 2008 Jun 10. J Hepatol. 2008. PMID: 18620775

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

309 results

Search Page