145 related articles for article (PubMed ID: 29896748)
1. [Identification of a homozygous ASS1 mutation in a child with citrullinemia type Ⅰ with high-melting curve method].
Sun J; Shen Y; Yan C; Gong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Jun; 35(3):429-433. PubMed ID: 29896748
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.
Lin Y; Gao H; Lu B; Zhou S; Zheng T; Lin W; Zhu L; Jiang M; Fu Q
BMC Med Genet; 2019 Jun; 20(1):110. PubMed ID: 31208364
[TBL] [Abstract][Full Text] [Related]
4. Identification of three novel mutations in fourteen patients with citrullinemia type 1.
Kose E; Unal O; Bulbul S; Gunduz M; Häberle J; Arslan N
Clin Biochem; 2017 Aug; 50(12):686-689. PubMed ID: 28132756
[TBL] [Abstract][Full Text] [Related]
5. [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]
6. Prenatal diagnosis of citrullinemia type 1: a Chinese family with a novel mutation of the ASS1 gene.
Wu TF; Liu YP; Li XY; Wang Q; Song JQ; Yang YL
Brain Dev; 2014 Mar; 36(3):264-7. PubMed ID: 23611581
[TBL] [Abstract][Full Text] [Related]
7. Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I.
Woo HI; Ki CS; Lee SY; Kim JW; Song J; Jin DK; Park WS; Lee DH; Lee YW; Park HD
Clin Biochem; 2013 Feb; 46(3):209-13. PubMed ID: 23099195
[TBL] [Abstract][Full Text] [Related]
8. Asymptomatic ASS1 carriers with high blood citrulline levels.
Chen HA; Hsu RH; Chang KL; Huang YC; Chiang YC; Lee NC; Hwu WL; Chiu PC; Chien YH
Mol Genet Genomic Med; 2022 Sep; 10(9):e2007. PubMed ID: 35726796
[TBL] [Abstract][Full Text] [Related]
9. [ASS1 gene mutation in a neonate with citrullinemia type I].
Xie B; Chen R; Wang J; Luo J; Li W; Chen S
Zhonghua Er Ke Za Zhi; 2014 Oct; 52(10):788-91. PubMed ID: 25537548
[TBL] [Abstract][Full Text] [Related]
10. [Genetic analysis of ASS1, ASL and SLC25A13 in citrullinemia patients].
Wen P; Chen Z; Wang G; Liu X; Chen L; Chen S; Wan L; Cui D; Shang Y; Li C
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Jun; 31(3):268-71. PubMed ID: 24927999
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Improved standards for prenatal diagnosis of citrullinemia.
Miller MJ; Soler-Alfonso CR; Grund JE; Fang P; Sun Q; Elsea SH; Sutton VR
Mol Genet Metab; 2014 Jul; 112(3):205-9. PubMed ID: 24889030
[TBL] [Abstract][Full Text] [Related]
13. [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]
14. Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M; Kölker S; Gleich F; Stützenberger N; Nagamani SCS; Gropman AL; Hoffmann GF; Garbade SF; Posset R;
Ann Clin Transl Neurol; 2019 Sep; 6(9):1858-1871. PubMed ID: 31469252
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.
Kobayashi K; Kakinoki H; Fukushige T; Shaheen N; Terazono H; Saheki T
Hum Genet; 1995 Oct; 96(4):454-63. PubMed ID: 7557970
[TBL] [Abstract][Full Text] [Related]
20. Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.
Diez-Fernandez C; Rüfenacht V; Häberle J
Hum Mutat; 2017 May; 38(5):471-484. PubMed ID: 28111830
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
