PubMed (OMIM) for id: 10165

Year	Number of Results
1972	1
1976	1
1979	1
1985	1
1993	1
1999	1
2000	1
2001	3
2002	4
2004	2
2005	1
2007	1
2008	2
2009	1
2010	1
2011	1
2014	1
2019	1
2024	0

1

Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2.

Okano Y, Ohura T, Sakamoto O, Inui A. Okano Y, et al. Mol Genet Metab. 2019 Jul;127(3):175-183. doi: 10.1016/j.ymgme.2019.06.004. Epub 2019 Jun 15. Mol Genet Metab. 2019. PMID: 31255436 Free article. Review.

2

A longitudinal study of urea cycle disorders.

Batshaw ML, Tuchman M, Summar M, Seminara J; Members of the Urea Cycle Disorders Consortium. Batshaw ML, et al. Mol Genet Metab. 2014 Sep-Oct;113(1-2):127-30. doi: 10.1016/j.ymgme.2014.08.001. Epub 2014 Aug 10. Mol Genet Metab. 2014. PMID: 25135652 Free PMC article. Review.

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. 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

Citrin deficiency and current treatment concepts.

Saheki T, Inoue K, Tushima A, Mutoh K, Kobayashi K. Saheki T, et al. Mol Genet Metab. 2010;100 Suppl 1:S59-64. doi: 10.1016/j.ymgme.2010.02.014. Epub 2010 Feb 24. Mol Genet Metab. 2010. PMID: 20233664

5

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

6

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. 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

7

An adult with type 2 citrullinemia presenting in Europe.

Fiermonte G, Soon D, Chaudhuri A, Paradies E, Lee PJ, Krywawych S, Palmieri F, Lachmann RH. Fiermonte G, et al. N Engl J Med. 2008 Mar 27;358(13):1408-9. doi: 10.1056/NEJMc0707353. N Engl J Med. 2008. PMID: 18367750 No abstract available.

8

Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency.

Saheki T, Iijima M, Li MX, Kobayashi K, Horiuchi M, Ushikai M, Okumura F, Meng XJ, Inoue I, Tajima A, Moriyama M, Eto K, Kadowaki T, Sinasac DS, Tsui LC, Tsuji M, Okano A, Kobayashi T. Saheki T, et al. J Biol Chem. 2007 Aug 24;282(34):25041-52. doi: 10.1074/jbc.M702031200. Epub 2007 Jun 25. J Biol Chem. 2007. PMID: 17591776 Free article.

9

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. 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

10

The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.

Roesch K, Hynds PJ, Varga R, Tranebjaerg L, Koehler CM. Roesch K, et al. Hum Mol Genet. 2004 Sep 15;13(18):2101-11. doi: 10.1093/hmg/ddh217. Epub 2004 Jul 14. Hum Mol Genet. 2004. PMID: 15254020

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