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Items: 1 to 20 of 92

1.
2.

Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia.

Hayasaka K, Numakura C, Toyota K, Kakizaki S, Watanabe H, Haga H, Takahashi H, Takahashi Y, Kaneko M, Yamakawa M, Nunoi H, Kato T, Ueno Y, Mori M.

Mol Genet Metab Rep. 2014 Jan 14;1:42-50. eCollection 2014.

3.

[Treatment and Pathomechanism of Citrin Deficiency].

Hayasaka K, Numakura C, Watanabe H.

Brain Nerve. 2015 Jun;67(6):739-47. doi: 10.11477/mf.1416200211. Review. Japanese.

PMID:
26062589
4.

Citrin Deficiency.

Saheki T, Song YZ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2005 Sep 16 [updated 2017 Aug 10].

6.

Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier.

Saheki T, Kobayashi K, Iijima M, Moriyama M, Yazaki M, Takei Y, Ikeda S.

Hepatol Res. 2005 Oct;33(2):181-4. Epub 2005 Sep 30.

PMID:
16199199
7.

Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency.

Tamamori A, Fujimoto A, Okano Y, Kobayashi K, Saheki T, Tagami Y, Takei H, Shigematsu Y, Hata I, Ozaki H, Tokuhara D, Nishimura Y, Yorifuji T, Igarashi N, Ohura T, Shimizu T, Inui K, Sakai N, Abukawa D, Miyakawa T, Matsumori M, Ban K, Kaneko H, Yamano T.

Pediatr Res. 2004 Oct;56(4):608-14. Epub 2004 Aug 4.

PMID:
15295082
8.

Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.

Tamamori A, Okano Y, Ozaki H, Fujimoto A, Kajiwara M, Fukuda K, Kobayashi K, Saheki T, Tagami Y, Yamano T.

Eur J Pediatr. 2002 Nov;161(11):609-13. Epub 2002 Sep 10.

PMID:
12424587
9.

Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants.

Treepongkaruna S, Jitraruch S, Kodcharin P, Charoenpipop D, Suwannarat P, Pienvichit P, Kobayashi K, Wattanasirichaigoon D.

BMC Gastroenterol. 2012 Oct 15;12:141. doi: 10.1186/1471-230X-12-141.

10.

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK.

Hutchin T, Preece MA, Hendriksz C, Chakrapani A, McClelland V, Okumura F, Song YZ, Iijima M, Kobayashi K, Saheki T, McKiernan P, Baumann U.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S151-5. doi: 10.1007/s10545-009-1116-x. Epub 2009 Jun 11.

PMID:
19517266
11.

[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.

Zhongguo Dang Dai Er Ke Za Zhi. 2006 Apr;8(2):125-8. Chinese.

PMID:
16613706
12.

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.

Int J Mol Med. 2011 Jul;28(1):33-40. doi: 10.3892/ijmm.2011.653. Epub 2011 Mar 21.

PMID:
21424115
13.

Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients.

Tazawa Y, Kobayashi K, Abukawa D, Nagata I, Maisawa S, Sumazaki R, Iizuka T, Hosoda Y, Okamoto M, Murakami J, Kaji S, Tabata A, Lu YB, Sakamoto O, Matsui A, Kanzaki S, Takada G, Saheki T, Iinuma K, Ohura T.

Mol Genet Metab. 2004 Nov;83(3):213-9.

PMID:
15542392
14.

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

Lu YB, Peng F, Li MX, Kobayashi K, Saheki T.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Dec;23(6):655-8. Review. Chinese.

PMID:
17160946
15.

Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).

Ohura T, Kobayashi K, Tazawa Y, Abukawa D, Sakamoto O, Tsuchiya S, Saheki T.

J Inherit Metab Dis. 2007 Apr;30(2):139-44. Epub 2007 Feb 24.

PMID:
17323144
16.

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.

J Biol Chem. 2007 Aug 24;282(34):25041-52. Epub 2007 Jun 25.

17.

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.

Mol Genet Metab. 2012 Nov;107(3):322-9. doi: 10.1016/j.ymgme.2012.07.021. Epub 2012 Aug 2.

PMID:
22921887
18.

Biochemical and molecular characteristics of citrin deficiency in Korean children.

Oh SH, Lee BH, Kim GH, Choi JH, Kim KM, Yoo HW.

J Hum Genet. 2017 Feb;62(2):305-307. doi: 10.1038/jhg.2016.131. Epub 2016 Nov 10.

PMID:
27829683
19.

Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: a clinical, genetic and transcriptional analysis.

Lin WX, Zhang ZH, Deng M, Cai XR, Song YZ.

Gene. 2012 Sep 1;505(2):269-75. doi: 10.1016/j.gene.2012.06.012. Epub 2012 Jun 15.

PMID:
22710133
20.

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children.

Ngu HL, Zabedah MY, Kobayashi K.

Malays J Pathol. 2010 Jun;32(1):53-7.

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