264 related articles for article (PubMed ID: 31208364)
21. 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]
22. Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population cluster.
Laróvere LE; Angaroni CJ; Antonozzi SL; Bezard MB; Shimohama M; de Kremer RD
Clin Biochem; 2009 Jul; 42(10-11):1166-8. PubMed ID: 19358837
[TBL] [Abstract][Full Text] [Related]
23. Functional identification of two novel variants and a hypomorphic variant in
Liu J; Wang Z; Yan H; Teng Y; Shi Q; Chen J; Tang W; Yu W; Peng Y; Xi H; Ma N; Liang D; Li Z; Wu L
Front Genet; 2023; 14():1172947. PubMed ID: 37485339
[No Abstract] [Full Text] [Related]
24. Transient fulminant liver failure as an initial presentation in citrullinemia type I.
Faghfoury H; Baruteau J; de Baulny HO; Häberle J; Schulze A
Mol Genet Metab; 2011 Apr; 102(4):413-7. PubMed ID: 21227727
[TBL] [Abstract][Full Text] [Related]
25. Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1.
Chandler RJ; Tarasenko TN; Cusmano-Ozog K; Sun Q; Sutton VR; Venditti CP; McGuire PJ
Gene Ther; 2013 Dec; 20(12):1188-91. PubMed ID: 24131980
[TBL] [Abstract][Full Text] [Related]
26. [Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia].
Lin Y; Yu K; Li L; Zheng Z; Lin W; Fu Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Oct; 34(5):676-679. PubMed ID: 28981931
[TBL] [Abstract][Full Text] [Related]
27. Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.
Perez CJ; Jaubert J; Guénet JL; Barnhart KF; Ross-Inta CM; Quintanilla VC; Aubin I; Brandon JL; Otto NW; DiGiovanni J; Gimenez-Conti I; Giulivi C; Kusewitt DF; Conti CJ; Benavides F
Am J Pathol; 2010 Oct; 177(4):1958-68. PubMed ID: 20724589
[TBL] [Abstract][Full Text] [Related]
28. Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis.
Marquis-Nicholson R; Glamuzina E; Prosser D; Wilson C; Love DR
Genet Mol Res; 2010 Aug; 9(3):1483-9. PubMed ID: 20690080
[TBL] [Abstract][Full Text] [Related]
29. Extracellular vesicles from human liver stem cells restore argininosuccinate synthase deficiency.
Herrera Sanchez MB; Previdi S; Bruno S; Fonsato V; Deregibus MC; Kholia S; Petrillo S; Tolosano E; Critelli R; Spada M; Romagnoli R; Salizzoni M; Tetta C; Camussi G
Stem Cell Res Ther; 2017 Jul; 8(1):176. PubMed ID: 28750687
[TBL] [Abstract][Full Text] [Related]
30. Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
Engel K; Höhne W; Häberle J
Hum Mutat; 2009 Mar; 30(3):300-7. PubMed ID: 19006241
[TBL] [Abstract][Full Text] [Related]
31. Detection of homozygous genotypes for a putatively lethal recessive mutation in the porcine argininosuccinate synthase 1 (ASS1) gene.
Mármol-Sánchez E; Luigi-Sierra MG; Quintanilla R; Amills M
Anim Genet; 2020 Feb; 51(1):106-110. PubMed ID: 31729055
[TBL] [Abstract][Full Text] [Related]
32. Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).
Häberle J; Pauli S; Schmidt E; Schulze-Eilfing B; Berning C; Koch HG
Mol Genet Metab; 2003 Nov; 80(3):302-6. PubMed ID: 14680976
[TBL] [Abstract][Full Text] [Related]
33. [ASS1 mutation leading to citrullinemia I in a Chinese Han family].
Hu P; Zhou XY; Ma DY; Sun Y; Zhang XJ; Han SP; Yu ZB; Jiang T; Chen YL; Xu Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec; 28(6):630-3. PubMed ID: 22161093
[TBL] [Abstract][Full Text] [Related]
34. Early cirrhosis in a patient with type I citrullinaemia (CTLN1).
Güçer S; Aşan E; Atilla P; Tokatli A; Cağlar M
J Inherit Metab Dis; 2004; 27(4):541-2. PubMed ID: 15334737
[TBL] [Abstract][Full Text] [Related]
35. Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations.
Xiong M; Chen M
Front Pediatr; 2022; 10():992156. PubMed ID: 36263152
[TBL] [Abstract][Full Text] [Related]
36. PRMT7 Interacts with ASS1 and Citrullinemia Mutations Disrupt the Interaction.
Verma M; Charles RCM; Chakrapani B; Coumar MS; Govindaraju G; Rajavelu A; Chavali S; Dhayalan A
J Mol Biol; 2017 Jul; 429(15):2278-2289. PubMed ID: 28587924
[TBL] [Abstract][Full Text] [Related]
37. Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis.
Kim IS; Ki CS; Kim JW; Lee M; Jin DK; Lee SY
J Biochem Mol Biol; 2006 Jul; 39(4):400-5. PubMed ID: 16889683
[TBL] [Abstract][Full Text] [Related]
38. Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.
Diez-Fernandez C; Wellauer O; Gemperle C; Rüfenacht V; Fingerhut R; Häberle J
J Med Genet; 2016 Oct; 53(10):710-9. PubMed ID: 27287393
[TBL] [Abstract][Full Text] [Related]
39. Pregnancy in a healthy woman with untreated citrullinemia.
Potter MA; Zeesman S; Brennan B; Kobayashi K; Gao HZ; Tabata A; Saheki T; Whelan DT
Am J Med Genet A; 2004 Aug; 129A(1):77-82. PubMed ID: 15266621
[TBL] [Abstract][Full Text] [Related]
40. Naturally-occurring spinosyn A and its derivatives function as argininosuccinate synthase activator and tumor inhibitor.
Zou Z; Hu X; Luo T; Ming Z; Chen X; Xia L; Luo W; Li J; Xu N; Chen L; Cao D; Wen M; Kong F; Peng K; Xie Y; Li X; Ma D; Yang C; Chen C; Yi W; Liu O; Liu S; Luo J; Luo Z
Nat Commun; 2021 Apr; 12(1):2263. PubMed ID: 33859183
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
