These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 22575253)

  • 21. 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. PubMed ID: 16737877
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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; 505(2):269-75. PubMed ID: 22710133
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [Analysis of clinical and genetic variation in neonatal intrahepatic cholestasis caused by citrin deficiency].
    Ge LL; Chen CF; Liu L; Zheng X; Zhang XM; Zhang YD; Mei SY
    Zhonghua Gan Zang Bing Za Zhi; 2023 Oct; 31(10):1081-1086. PubMed ID: 38016774
    [No Abstract]   [Full Text] [Related]  

  • 24. 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. PubMed ID: 27829683
    [TBL] [Abstract][Full Text] [Related]  

  • 25. SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency.
    Zeng HS; Lin WX; Zhao ST; Zhang ZH; Yang HW; Chen FP; Song YZ; Yin ZN
    Mol Med Rep; 2016 Dec; 14(6):5189-5194. PubMed ID: 27779681
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [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. PubMed ID: 21507300
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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. PubMed ID: 12424587
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Bile acid profiles in neonatal intrahepatic cholestasis caused by citrin deficiency.
    Yang CH; Chen CY; Chou YY; Chiu HC; Tsai WL; Shiesh SC
    Clin Chim Acta; 2017 Dec; 475():28-35. PubMed ID: 28987776
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [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. PubMed ID: 17160946
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants.
    Ko JS; Song JH; Park SS; Seo JK
    J Korean Med Sci; 2007 Dec; 22(6):952-6. PubMed ID: 18162705
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency.
    Lin J; Lin W; Lin Y; Peng W; Zheng Z
    Clin Chim Acta; 2024 Jan; 552():117617. PubMed ID: 37890575
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [SLC25A13 gene mutations in Chinese infants with intrahepatic cholestasis and abnormal blood amino acids].
    Zhang SR; Wang JS; Wang XH; Zhu QR; Liu LY
    Zhonghua Gan Zang Bing Za Zhi; 2008 Jun; 16(6):445-8. PubMed ID: 18578996
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study.
    Fiermonte G; Parisi G; Martinelli D; De Leonardis F; Torre G; Pierri CL; Saccari A; Lasorsa FM; Vozza A; Palmieri F; Dionisi-Vici C
    Mol Genet Metab; 2011 Dec; 104(4):501-6. PubMed ID: 21914561
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Novel mutations in the SLC25A13 gene in a patient with NICCD and severe manifestations.
    Wang H; Shu S; Chen C; Huang Z; Wang D
    J Pediatr Endocrinol Metab; 2015 Mar; 28(3-4):471-5. PubMed ID: 25381944
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.
    Yamaguchi N; Kobayashi K; Yasuda T; Nishi I; Iijima M; Nakagawa M; Osame M; Kondo I; Saheki T
    Hum Mutat; 2002 Feb; 19(2):122-30. PubMed ID: 11793471
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Citrin deficiency due to SLC25A13 exon deletion in a Chinese infant: A case report.
    Liu J; Lin S; Guan S; Chen Q; Wang X; He Y; Qi Y; Feng J; Liu Y
    Medicine (Baltimore); 2023 Dec; 102(49):e36293. PubMed ID: 38065893
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Cloning and sequence analysis of SLC25A13 transcripts in human amniocytes].
    Zhang ZH; Zhao XJ; Song YZ; Tang XM; Zha QB
    Zhongguo Dang Dai Er Ke Za Zhi; 2012 Mar; 14(3):221-5. PubMed ID: 22433413
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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. PubMed ID: 15542392
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [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. PubMed ID: 19099775
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report.
    Miyamoto R; Sada J; Ota K; Kaneko K; Kusano H; Azuma Y; Okumura A
    BMC Pediatr; 2021 May; 21(1):237. PubMed ID: 34006251
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.