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Items: 1 to 20 of 101

1.

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

Song YZ, Ushikai M, Kobayashi K, Saheki T.

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

PMID:
19951499
2.

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.

Dig Liver Dis. 2009 Sep;41(9):683-9. doi: 10.1016/j.dld.2008.11.014. Epub 2009 Jan 29.

PMID:
19185551
3.

[Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency].

Song YZ, Sheng JS, Ushikai M, Hwu WL, Zhang CH, Kobayashi K.

Zhonghua Er Ke Za Zhi. 2008 Jun;46(6):411-5. Chinese.

PMID:
19099775
4.

[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency].

Xing YZ, Qiu WJ, Ye J, Han LS, Xu SS, Zhang HW, Gao XL, Wang Y, Gu XF.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Apr;27(2):180-5. doi: 10.3760/cma.j.issn.1003-9406.2010.02.014. Chinese.

PMID:
20376801
5.

[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.

Zhonghua Er Ke Za Zhi. 2007 Jun;45(6):408-12. Chinese.

PMID:
17880783
6.

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.

7.

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.

8.

[SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency].

Wen PQ, Wang GB, Chen ZL, Cui D, Yuan Q, Song P, Chen SL, Liao JX, Li CR.

Zhongguo Dang Dai Er Ke Za Zhi. 2011 Apr;13(4):303-8. Chinese.

9.

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.

PLoS One. 2013 Sep 19;8(9):e74544. doi: 10.1371/journal.pone.0074544. eCollection 2013.

10.

Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis.

Chen R, Wang XH, Fu HY, Zhang SR, Abudouxikuer K, Saheki T, Wang JS.

World J Gastroenterol. 2013 Jul 28;19(28):4545-51. doi: 10.3748/wjg.v19.i28.4545.

11.

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.

J Hum Genet. 2008;53(6):534-45. doi: 10.1007/s10038-008-0282-2. Epub 2008 Apr 5.

PMID:
18392553
12.

The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia.

Fu HY, Zhang SR, Wang XH, Saheki T, Kobayashi K, Wang JS.

J Gastroenterol. 2011 Apr;46(4):510-8. doi: 10.1007/s00535-010-0329-y. Epub 2010 Oct 7.

PMID:
20927635
13.

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.

Mol Genet Metab. 2012 Apr;105(4):553-8. doi: 10.1016/j.ymgme.2011.12.024. Epub 2012 Jan 8.

PMID:
22277121
14.

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
15.

Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants.

Yeh JN, Jeng YM, Chen HL, Ni YH, Hwu WL, Chang MH.

J Pediatr. 2006 May;148(5):642-6.

PMID:
16737877
16.

A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing.

Liu G, Wei X, Chen R, Zhou H, Li X, Sun Y, Xie S, Zhu Q, Qu N, Yang G, Chu Y, Wu H, Lan Z, Wang J, Yang Y, Yi X.

Gene. 2014 Jan 10;533(2):547-53. doi: 10.1016/j.gene.2013.10.021. Epub 2013 Oct 23.

PMID:
24161253
17.

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.

J Hum Genet. 2005;50(7):338-46. Epub 2005 Jul 30.

PMID:
16059747
18.

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.

Mol Genet Metab. 2007 Jan;90(1):30-6. Epub 2006 Nov 7.

PMID:
17092749
19.

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.

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

PMID:
17982687
20.

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.

Tohoku J Exp Med. 2014;233(4):275-81.

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