scholarly journals Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele

Oncotarget ◽  
2017 ◽  
Vol 8 (50) ◽  
pp. 87182-87193 ◽  
Author(s):  
Zhan-Hui Zhang ◽  
Wei-Xia Lin ◽  
Qi-Qi Zheng ◽  
Li Guo ◽  
Yuan-Zong Song
Keyword(s):  
Molecular Diagnosis ◽  
Intrahepatic Cholestasis ◽  
Citrin Deficiency

Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency

2019 ◽  
Vol 43 (3) ◽  
pp. 467-477 ◽  
Author(s):  
Yiming Lin ◽  
Yaru Liu ◽  
Lin Zhu ◽  
Kaixing Le ◽  
Yuyan Shen ◽  
...  
Keyword(s):  
Genetic Screening ◽  
Intrahepatic Cholestasis ◽  
Citrin Deficiency

scholarly journals Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Wei-Xia Lin ◽  
Han-Shi Zeng ◽  
Zhan-Hui Zhang ◽  
Man Mao ◽  
Qi-Qi Zheng ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Geographic Distribution ◽  
Pediatric Patients ◽  
Mutation Spectrum ◽  
Citrin Deficiency

scholarly journals Nursing of an Infant Diagnosed with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) with Respiratory Syncytial Virus (RSV) Infection: A Case Report

2021 ◽  
Vol 10 (1) ◽  
pp. 31
Author(s):  
Lingli Cai ◽  
Yuanzong Song ◽  
Ning Zhang ◽  
Meixue Chen ◽  
Weiju Chen ◽  
...  
Keyword(s):  
Case Report ◽  
Respiratory Syncytial Virus ◽  
Intrahepatic Cholestasis ◽  
Rsv Infection ◽  
Syncytial Virus ◽  
Citrin Deficiency

scholarly journals Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency in Korean Infants

2007 ◽  
Vol 22 (6) ◽  
pp. 952
Author(s):  
Jae Sung Ko ◽  
Jung Han Song ◽  
Sung Sup Park ◽  
Jeong Kee Seo
Keyword(s):  
Intrahepatic Cholestasis ◽  
Citrin Deficiency

scholarly journals Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Using High-Resolution Melting Analysis and a Clinical Scoring System

2012 ◽  
Vol 161 (4) ◽  
pp. 626-631.e2 ◽  
Author(s):  
Szu-Ta Chen ◽  
Yi-Ning Su ◽  
Yen-Hsuan Ni ◽  
Wuh-Liang Hwu ◽  
Ni-Chung Lee ◽  
...  
Keyword(s):  
High Resolution ◽  
Intrahepatic Cholestasis ◽  
Scoring System ◽  
High Resolution Melting ◽  
High Resolution Melting Analysis ◽  
Clinical Scoring ◽  
Melting Analysis ◽  
Citrin Deficiency

Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency

2006 ◽  
Vol 29 (4) ◽  
pp. 551-555 ◽  
Author(s):  
Ni-Chung Lee ◽  
Yin-Hsiu Chien ◽  
Keiko Kobayashi ◽  
Takeyori Saheki ◽  
Huey-Ling Chen ◽  
...  
Keyword(s):  
Intrahepatic Cholestasis ◽  
Time Course ◽  
Citrin Deficiency

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Differentiated from Biliary Atresia

2015 ◽  
Vol 26 (03) ◽  
pp. 255-259 ◽  
Author(s):  
Wei-Jue Xu ◽  
Guo-Li Tian ◽  
Ting Zhang ◽  
Zhibao Lv ◽  
Zhenhua Gong
Keyword(s):  
Biliary Atresia ◽  
Intrahepatic Cholestasis ◽  
Citrin Deficiency

A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency

2003 ◽  
Vol 162 (5) ◽  
pp. 317-322 ◽  
Author(s):  
Toshihiro Ohura ◽  
Keiko Kobayashi ◽  
Daiki Abukawa ◽  
Yusaku Tazawa ◽  
Jun-ichiro Aikawa ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Intrahepatic Cholestasis ◽  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Citrin Deficiency

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

2004 ◽  
Vol 83 (3) ◽  
pp. 213-219 ◽  
Author(s):  
Yusaku Tazawa ◽  
Keiko Kobayashi ◽  
Daiki Abukawa ◽  
Ikuo Nagata ◽  
Shunichi Maisawa ◽  
...  
Keyword(s):  
Intrahepatic Cholestasis ◽  
Case Reports ◽  
Clinical Heterogeneity ◽  
Citrin Deficiency
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