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MeSH:(Calcium-Binding Proteins/*deficiency)

2.Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency in Korean Infants.

Jae Sung KO ; Jung Han SONG ; Sung Sup PARK ; Jeong Kee SEO

Journal of Korean Medical Science 2007;22(6):952-956

3.A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency.

Yuan-Zong SONG ; Hu HAO ; Miharu USHIKAI ; Guo-Sheng LIU ; Xin XIAO ; Takeyori SAHEKI ; Keiko KOBAYASHI ; Zi-Neng WANG

Chinese Journal of Contemporary Pediatrics 2006;8(2):125-128

4.Progresses and perspectives in the study on citrin deficiency.

Yao-bang LU ; Fei PENG ; Meng-xian LI ; Keiko KOBAYASHI ; Takeyori SAHEKI

Chinese Journal of Medical Genetics 2006;23(6):655-658

5.Analysis of SLC25A13 gene variants in 16 infants with intrahepatic cholestasis caused by citrin protein deficiency.

Wenwen LIU ; Xin MA ; Meijuan WANG ; Huijuan NING ; Xuemei ZHONG

Chinese Journal of Medical Genetics 2022;39(2):139-142

6.Utilization of high-resolution melting analysis to screen patients with neonatal intrahepatic cholestasis caused by citrin deficiency.

Peng-qiang WEN ; Guo-bing WANG ; Zhan-ling CHEN ; Dong CUI ; Xiao-hong LIU ; Li-fang YING ; Ping SONG ; Quan YUAN ; Shu-li CHEN ; Jian-xiang LIAO

Chinese Journal of Medical Genetics 2012;29(2):167-171

7.Improving the diagnostic method for the SLC25A13 gene 851del4 mutation and analysis of the common mutation frequencies in Quanzhou area.

Hong-zhi GAO ; Qiu-lan LI ; Xiang-long ZHUANG ; Kobayashi KEIKO ; Ushikai MIHARU ; Saheki TAKEYORI ; Wei-peng HU ; Chang-wen ZHOU ; Ling LIN

Chinese Journal of Medical Genetics 2010;27(6):626-630

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

Yuan-Zong SONG ; Li GUO ; Yan-Ling YANG ; Lian-Shu HAN ; Keiko KOBAYASHI ; Takeyori SAHEKI

Chinese Journal of Contemporary Pediatrics 2009;11(5):328-332

9.Cloning and sequence analysis of SLC25A13 transcripts in human amniocytes.

Zhan-Hui ZHANG ; Xin-Jing ZHAO ; Yuan-Zong SONG ; Xiao-Mei TANG ; Qing-Bing ZHA

Chinese Journal of Contemporary Pediatrics 2012;14(3):221-225

10.Neonatal intrahepatic cholestasis caused by citrin deficiency: a histopathologic study of 10 cases.

Guang-yu JIANG ; Zhao-ming CHENG ; Kai-shan LIU

Chinese Journal of Pathology 2012;41(7):452-455

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