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Items: 1 to 20 of 53

1.
Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency
Kena Wang, Biao Zou, Fan Chen, Jianling Zhang, Zhihua Huang, Sainan Shu
Front Pediatr. 2023; 11: 1103877. Published online 2023 Mar 29. doi: 10.3389/fped.2023.1103877
PMCID:
PMC10090684
ArticlePubReaderPDF–1.3MCite
2.
Dynamic changes of metabolic characteristics in neonatal intrahepatic cholestasis caused by citrin deficiency
Ting Zhang, Shasha Zhu, Haixia Miao, Jianbin Yang, Yezhen Shi, Yuwei Yue, Yu Zhang, Rulai Yang, Benqing Wu, Xinwen Huang
Front Mol Biosci. 2022; 9: 939837. Published online 2022 Aug 24. doi: 10.3389/fmolb.2022.939837
PMCID:
PMC9449879
ArticlePubReaderPDF–2.5MCite
3.
Citrin蛋白缺乏所致新生儿肝内胆汁淤积症患儿临床特征及基因分析
Hao LIU, Chun LI, Xiaowen LI, Chaowen YU, Xiaoyan HE, Jingkun MIAO
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021 Aug; 50(4): 506–513. Chinese. doi: 10.3724/zdxbyxb-2021-0264
PMCID:
PMC8714479
ArticlePubReaderPDF–2.2MCite
4.
Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with SLC25A13 Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report
Shu-Wei Hu, Wen-Li Lu, I-Ping Chiang, Shu-Fen Wu, Chung-Hsing Wang, An-Chyi Chen
Medicina (Kaunas) 2021 Oct; 57(10): 1032. Published online 2021 Sep 28. doi: 10.3390/medicina57101032
PMCID:
PMC8541001
ArticlePubReaderPDF–5.6MCite
5.
Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report
Ryosuke Miyamoto, Jun Sada, Koki Ota, Kenitiro Kaneko, Hironori Kusano, Yoshiteru Azuma, Akihisa Okumura
BMC Pediatr. 2021; 21: 237. Published online 2021 May 18. doi: 10.1186/s12887-021-02717-w
PMCID:
PMC8130366
ArticlePubReaderPDF–852KCite
6.
Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn
Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu
BMC Pediatr. 2020; 20: 478. Published online 2020 Oct 13. doi: 10.1186/s12887-020-02372-7
PMCID:
PMC7552534
ArticlePubReaderPDF–1.0MCite
7.
Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry
Hiroko Shigetomi, Toju Tanaka, Masayoshi Nagao, Hiroyuki Tsutsumi
Int J Neonatal Screen. 2018 Mar; 4(1): 5. Published online 2018 Jan 16. doi: 10.3390/ijns4010005
PMCID:
PMC7548893
ArticlePubReaderPDF–798KCite
8.
Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: a case report
Linlin Zhang, Yingying Li, Wenli Shi, Jinshuang Gao, Yuan Tian, Ying Li, Yaqing Guo, Shihong Cui, Xiaoan Zhang
BMC Pediatr. 2019; 19: 348. Published online 2019 Oct 13. doi: 10.1186/s12887-019-1751-9
PMCID:
PMC6790242
ArticlePubReaderPDF–810KCite
9.
Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications
Kuerbanjiang Abuduxikuer, Rui Chen, Zhong-Lin Wang, Jian-She Wang
BMC Pediatr. 2019; 19: 18. Published online 2019 Jan 14. doi: 10.1186/s12887-018-1383-5
PMCID:
PMC6330752
ArticlePubReaderPDF–571KCite
10.
Analysis of islet beta cell functions and their correlations with liver dysfunction in patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
Chun-Ting Lu, Jing Yang, Si-Min Huang, Lie Feng, Ze-Jian Li
Medicine (Baltimore) 2017 Nov; 96(45): e8638. Published online 2017 Nov 10. doi: 10.1097/MD.0000000000008638
PMCID:
PMC5690794
ArticlePubReaderPDF–247KCite
11.
Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients
Chun-Ting Lu, Qi-Ping Shi, Ze-Jian Li, Jiong Li, Lie Feng
Exp Biol Med (Maywood) 2017 Jun; 242(12): 1271–1278. Published online 2017 May 18. doi: 10.1177/1535370217710918
PMCID:
PMC5476344
ArticlePubReaderPDF–130KCite
12.
Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study
Qi-Qi Zheng, Zhan-Hui Zhang, Han-Shi Zeng, Wei-Xia Lin, Heng-Wen Yang, Zhi-Nan Yin, Yuan-Zong Song
Biomed Res Int. 2016; 2016: 4124263. Published online 2016 Apr 5. doi: 10.1155/2016/4124263
PMCID:
PMC4835617
ArticlePubReaderPDF–289KCite
13.
Clinical, Molecular and Functional Investigation on an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD)
Zhan-Hui Zhang, Wei-Xia Lin, Mei Deng, Shu-Tao Zhao, Han-Shi Zeng, Feng-Ping Chen, Yuan-Zong Song
PLoS One. 2014; 9(2): e89267. Published online 2014 Feb 21. doi: 10.1371/journal.pone.0089267
PMCID:
PMC3931723
ArticlePubReaderPDF–4.1MCite
14.
Treatment with Lactose (Galactose)-Restricted and Medium-Chain Triglyceride-Supplemented Formula for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency
K. Hayasaka, C. Numakura, K. Toyota, T. Kimura
JIMD Rep. 2012; 2: 37–44. Published online 2011 Sep 6. doi: 10.1007/8904_2011_42
PMCID:
PMC3509838
ArticlePubReaderPDF–496KCite
15.
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among thai infants
Suporn Treepongkaruna, Suttiruk Jitraruch, Porawee Kodcharin, Dussadee Charoenpipop, Pim Suwannarat, Paneeya Pienvichit, Keiko Kobayashi, Duangrurdee Wattanasirichaigoon
BMC Gastroenterol. 2012; 12: 141. Published online 2012 Oct 15. doi: 10.1186/1471-230X-12-141
PMCID:
PMC3483206
ArticlePubReaderPDF–389KCite
16.
Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency in Korean Infants
Jae Sung Ko, Jung Han Song, Sung Sup Park, Jeong Kee Seo
J Korean Med Sci. 2007 Dec; 22(6): 952–956. Published online 2007 Dec 20. doi: 10.3346/jkms.2007.22.6.952
PMCID:
PMC2694627
ArticlePubReaderPDF–85KCite
17.
Citrin Deficiency: Clinical and Nutritional Features
Michiharu Komatsu, Naoki Tanaka, Takefumi Kimura, Masahide Yazaki
Nutrients. 2023 May; 15(10): 2284. Published online 2023 May 12. doi: 10.3390/nu15102284
PMCID:
PMC10224054
ArticlePubReaderPDF–1.3MCite
18.
Citrin deficiency mimicking mitochondrial depletion syndrome
S. C. Grünert, A. Schumann, P. Freisinger, S. Rosenbaum-Fabian, M. Schmidts, A. J. Mueller, S. Beck-Wödl, T. B. Haack, H. Schneider, H. Fuchs, U. Teufel, G. Gramer, L. Hannibal, U. Spiekerkoetter
BMC Pediatr. 2020; 20: 518. Published online 2020 Nov 11. doi: 10.1186/s12887-020-02409-x
PMCID:
PMC7659096
ArticlePubReaderPDF–567KCite
19.
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency
Sotiria Tavoulari, Denis Lacabanne, Chancievan Thangaratnarajah, Edmund R.S. Kunji
Trends Endocrinol Metab. Author manuscript; available in PMC 2023 Feb 24.
Published in final edited form as: Trends Endocrinol Metab. 2022 Aug 1; 33(8): 539–553. Published online 2022 Jun 17. doi: 10.1016/j.tem.2022.05.002
PMCID:
PMC7614230
ArticlePubReaderPDF–4.0MCite
20.
AGC2 (Citrin) Deficiency—From Recognition of the Disease till Construction of Therapeutic Procedures
Takeyori Saheki, Mitsuaki Moriyama, Aki Funahashi, Eishi Kuroda
Biomolecules. 2020 Aug; 10(8): 1100. Published online 2020 Jul 24. doi: 10.3390/biom10081100
PMCID:
PMC7465890
ArticlePubReaderPDF–3.7MCite

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