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)

  • 1. Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system.
    Chen ST; Su YN; Ni YH; Hwu WL; Lee NC; Chien YH; Chang CC; Chen HL; Chang MH
    J Pediatr; 2012 Oct; 161(4):626-31.e2. PubMed ID: 22575253
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Utilization of high-resolution melting analysis to screen patients with neonatal intrahepatic cholestasis caused by citrin deficiency].
    Wen PQ; Wang GB; Chen ZL; Cui D; Liu XH; Ying LF; Song P; Yuan Q; Chen SL; Liao JX
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Apr; 29(2):167-71. PubMed ID: 22487826
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [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. PubMed ID: 20376801
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients.
    Lu CT; Shi QP; Li ZJ; Li J; Feng L
    Exp Biol Med (Maywood); 2017 Jun; 242(12):1271-1278. PubMed ID: 28516797
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 17982687
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 12():141. PubMed ID: 23067347
    [TBL] [Abstract][Full Text] [Related]  

  • 7. High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan.
    Lin JT; Hsiao KJ; Chen CY; Wu CC; Lin SJ; Chou YY; Shiesh SC
    Clin Chim Acta; 2011 Feb; 412(5-6):460-5. PubMed ID: 21134364
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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. PubMed ID: 20614727
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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. PubMed ID: 19185551
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD).
    Saheki T; Kobayashi K
    J Hum Genet; 2002; 47(7):333-41. PubMed ID: 12111366
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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.
    Zheng QQ; Zhang ZH; Zeng HS; Lin WX; Yang HW; Yin ZN; Song YZ
    Biomed Res Int; 2016; 2016():4124263. PubMed ID: 27127784
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency.
    Tamamori A; Fujimoto A; Okano Y; Kobayashi K; Saheki T; Tagami Y; Takei H; Shigematsu Y; Hata I; Ozaki H; Tokuhara D; Nishimura Y; Yorifuji T; Igarashi N; Ohura T; Shimizu T; Inui K; Sakai N; Abukawa D; Miyakawa T; Matsumori M; Ban K; Kaneko H; Yamano T
    Pediatr Res; 2004 Oct; 56(4):608-14. PubMed ID: 15295082
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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. PubMed ID: 20927635
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Analysis of SLC25A13 gene mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency].
    Xu J; Gao M; Lyu Y; Tang Y; Wei X; Yang L; Zhang K; Liu Y; Gai Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Feb; 35(1):34-38. PubMed ID: 29419856
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 17092749
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor.
    Shigeta T; Kasahara M; Kimura T; Fukuda A; Sasaki K; Arai K; Nakagawa A; Nakagawa S; Kobayashi K; Soneda S; Kitagawa H
    Pediatr Transplant; 2010 Nov; 14(7):E86-8. PubMed ID: 19413723
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical characteristics and genetic analysis of neonatal intrahepatic cholestasis caused by citrin deficiency in comparison with idiopathic neonatal cholestasis.
    Liu H; Li C; Li X; Yu C; He X; Miao J
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2021 Aug; 50(4):506-513. PubMed ID: 34704407
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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. PubMed ID: 17880783
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life.
    Thong MK; Boey CC; Sheng JS; Ushikai M; Kobayashi K
    Singapore Med J; 2010 Jan; 51(1):e12-4. PubMed ID: 20200759
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.
    Chew HB; Ngu LH; Zabedah MY; Keng WT; Balasubramaniam S; Hanifah MJ; Kobayashi K
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S489-95. PubMed ID: 21161389
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.