BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 38027652)

  • 1. Citrullinemia type II accompanied by mental derangement combined with multidrug resistance 3 decrease, case report.
    Zhao H; Yu X; Cheng J; Chen D; Xu Q; Sheng J; Shi Y
    Heliyon; 2023 Nov; 9(11):e21760. PubMed ID: 38027652
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.
    Yasuda T; Yamaguchi N; Kobayashi K; Nishi I; Horinouchi H; Jalil MA; Li MX; Ushikai M; Iijima M; Kondo I; Saheki T
    Hum Genet; 2000 Dec; 107(6):537-45. PubMed ID: 11153906
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles.
    Tanaka T; Nagao M; Tsutsumi H
    Tohoku J Exp Med; 2002 Oct; 198(2):89-97. PubMed ID: 12512993
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Steatogenesis in adult-onset type II citrullinemia is associated with down-regulation of PPARα.
    Komatsu M; Kimura T; Yazaki M; Tanaka N; Yang Y; Nakajima T; Horiuchi A; Fang ZZ; Joshita S; Matsumoto A; Umemura T; Tanaka E; Gonzalez FJ; Ikeda S; Aoyama T
    Biochim Biophys Acta; 2015 Mar; 1852(3):473-81. PubMed ID: 25533124
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report.
    Qiao F; Ren F; Lu W; Yang H; Mo G; Wang S; Liu L; Xu X
    BMC Med Genomics; 2023 Jul; 16(1):171. PubMed ID: 37488596
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.
    Sinasac DS; Moriyama M; Jalil MA; Begum L; Li MX; Iijima M; Horiuchi M; Robinson BH; Kobayashi K; Saheki T; Tsui LC
    Mol Cell Biol; 2004 Jan; 24(2):527-36. PubMed ID: 14701727
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing.
    Liu G; Wei X; Chen R; Zhou H; Li X; Sun Y; Xie S; Zhu Q; Qu N; Yang G; Chu Y; Wu H; Lan Z; Wang J; Yang Y; Yi X
    Gene; 2014 Jan; 533(2):547-53. PubMed ID: 24161253
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13.
    Köse MD; Kagnici M; Özdemir TR; Erdur CB; Erdemir G; Karakoyun M; Guzin Y; Ceylaner S; Genel F
    J Pediatr Endocrinol Metab; 2020 Jan; 33(1):157-163. PubMed ID: 31809266
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A case of adult-onset type II citrullinemia--deterioration of clinical course after infusion of hyperosmotic and high sugar solutions.
    Takahashi H; Kagawa T; Kobayashi K; Hirabayashi H; Yui M; Begum L; Mine T; Takagi S; Saheki T; Shinohara Y
    Med Sci Monit; 2006 Feb; 12(2):CS13-5. PubMed ID: 16449956
    [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. Liver transplantation versus conservative treatment for adult-onset type II citrullinemia: our experience and a review of the literature.
    Kimura N; Kubo N; Narumi S; Toyoki Y; Ishido K; Kudo D; Umehara M; Yakoshi Y; Hakamada K
    Transplant Proc; 2013 Nov; 45(9):3432-7. PubMed ID: 24182831
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia.
    Hayasaka K; Numakura C; Toyota K; Kakizaki S; Watanabe H; Haga H; Takahashi H; Takahashi Y; Kaneko M; Yamakawa M; Nunoi H; Kato T; Ueno Y; Mori M
    Mol Genet Metab Rep; 2014; 1():42-50. PubMed ID: 27896073
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma.
    Tsai CW; Yang CC; Chen HL; Hwu WL; Wu MZ; Liu KL; Wu MS
    J Formos Med Assoc; 2006 Oct; 105(10):852-6. PubMed ID: 17000460
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene.
    Takahashi Y; Koyama S; Tanaka H; Arawaka S; Wada M; Kawanami T; Haga H; Watanabe H; Toyota K; Numakura C; Hayasaka K; Kato T
    Intern Med; 2012; 51(16):2131-4. PubMed ID: 22892490
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with
    Hu SW; Lu WL; Chiang IP; Wu SF; Wang CH; Chen AC
    Medicina (Kaunas); 2021 Sep; 57(10):. PubMed ID: 34684069
    [No Abstract]   [Full Text] [Related]  

  • 17. [A case of adult-onset type II citrullinemia with repeated nonconvulsive status epilepticus].
    Funabe S; Tanaka R; Urabe T; Kawasaki S; Kobayashi K; Hattori N
    Rinsho Shinkeigaku; 2009 Sep; 49(9):571-5. PubMed ID: 19928687
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Neonatal presentation of adult-onset type II citrullinemia.
    Ohura T; Kobayashi K; Tazawa Y; Nishi I; Abukawa D; Sakamoto O; Iinuma K; Saheki T
    Hum Genet; 2001 Feb; 108(2):87-90. PubMed ID: 11281457
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.
    Gordo-Gilart R; Andueza S; Hierro L; Martínez-Fernández P; D'Agostino D; Jara P; Alvarez L
    Gut; 2015 Jan; 64(1):147-55. PubMed ID: 24594635
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.