185 related articles for article (PubMed ID: 12512993)
1. 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]
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. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue.
Sinasac DS; Crackower MA; Lee JR; Kobayashi K; Saheki T; Scherer SW; Tsui LC
Genomics; 1999 Dec; 62(2):289-92. PubMed ID: 10610724
[TBL] [Abstract][Full Text] [Related]
10. Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening.
Naito E; Ito M; Matsuura S; Yokota ; Saijo T; Ogawa Y; Kitamura S; Kobayashi K; Saheki T; Nishimura Y; Sakura N; Kuroda Y
J Inherit Metab Dis; 2002 Feb; 25(1):71-6. PubMed ID: 11999983
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Molecular genetics of citrullinemia types I and II.
Woo HI; Park HD; Lee YW
Clin Chim Acta; 2014 Apr; 431():1-8. PubMed ID: 24508627
[TBL] [Abstract][Full Text] [Related]
13. Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis.
Takagi H; Hagiwara S; Hashizume H; Kanda D; Sato K; Sohara N; Kakizaki S; Takahashi H; Mori M; Kaneko H; Ohwada S; Ushikai M; Kobayashi K; Saheki T
J Hepatol; 2006 Jan; 44(1):236-9. PubMed ID: 16278034
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.
Kimani JK; Wei T; Chol K; Li Y; Yu P; Ye S; Huang X; Qi M
Clin Chim Acta; 2015 Jan; 438():323-9. PubMed ID: 25179242
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.
Tabata A; Sheng JS; Ushikai M; Song YZ; Gao HZ; Lu YB; Okumura F; Iijima M; Mutoh K; Kishida S; Saheki T; Kobayashi K
J Hum Genet; 2008; 53(6):534-545. PubMed ID: 18392553
[TBL] [Abstract][Full Text] [Related]
19. Recovery from marked altered consciousness in a patient with adult-onset type II citrullinemia diagnosed by DNA analysis and treated with a living related partial liver transplantation.
Takashima Y; Koide M; Fukunaga H; Iwai M; Miura M; Yoneda R; Fukuda T; Kobayashi K; Saheki T
Intern Med; 2002 Jul; 41(7):555-60. PubMed ID: 12132524
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]