135 related articles for article (PubMed ID: 31156699)
1. Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay.
Wang Y; Sun Y; Liu M; Zhang X; Jiang T
Front Genet; 2019; 10():436. PubMed ID: 31156699
[TBL] [Abstract][Full Text] [Related]
2. Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.
Hu L; Pandey AV; Eggimann S; Rüfenacht V; Möslinger D; Nuoffer JM; Häberle J
J Biol Chem; 2013 Nov; 288(48):34599-611. PubMed ID: 24136197
[TBL] [Abstract][Full Text] [Related]
3. Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
Trevisson E; Salviati L; Baldoin MC; Toldo I; Casarin A; Sacconi S; Cesaro L; Basso G; Burlina AB
Hum Mutat; 2007 Jul; 28(7):694-702. PubMed ID: 17326097
[TBL] [Abstract][Full Text] [Related]
4. NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.
Wen W; Yin D; Huang F; Guo M; Tian T; Zhu H; Yang Y
BMC Med Genet; 2016 Feb; 17():9. PubMed ID: 26843370
[TBL] [Abstract][Full Text] [Related]
5. A novel
Miao M; Feng L; Wang J; Xu C; Su X; Zhang G; Lu S
Front Genet; 2023; 14():1207772. PubMed ID: 37456659
[No Abstract] [Full Text] [Related]
6. Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
Linnebank M; Tschiedel E; Häberle J; Linnebank A; Willenbring H; Kleijer WJ; Koch HG
Hum Genet; 2002 Oct; 111(4-5):350-9. PubMed ID: 12384776
[TBL] [Abstract][Full Text] [Related]
7. Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
Balmer C; Pandey AV; Rüfenacht V; Nuoffer JM; Fang P; Wong LJ; Häberle J
Hum Mutat; 2014 Jan; 35(1):27-35. PubMed ID: 24166829
[TBL] [Abstract][Full Text] [Related]
8. Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in
Zhao M; Hou L; Teng H; Li J; Wang J; Zhang K; Yang L
Biomed Res Int; 2019; 2019():3530198. PubMed ID: 31183366
[TBL] [Abstract][Full Text] [Related]
9. From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
Zielonka M; Garbade SF; Gleich F; Okun JG; Nagamani SCS; Gropman AL; Hoffmann GF; Kölker S; Posset R;
Hum Mutat; 2020 May; 41(5):946-960. PubMed ID: 31943503
[TBL] [Abstract][Full Text] [Related]
10. [Genetic diagnosis of a Chinese pedigree affected with neonatal argininosuccinic aciduria].
Li W; Li H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Sep; 36(9):926-929. PubMed ID: 31515792
[TBL] [Abstract][Full Text] [Related]
11. Effect of c.1431C > T mutation, a causative mutation of Glanzmann's thrombasthenia, on ITGB3 splicing, gene and protein expression.
Wang D; Lai P; Lu Q; El-Magd MA; Li X
Gene; 2023 Dec; 888():147805. PubMed ID: 37716584
[TBL] [Abstract][Full Text] [Related]
12. [Clinical and genetic analysis of two children suspected for argininosuccinic aciduria].
Cheng W; Sun Y; Wang Y; Ma D; Jiang T
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 May; 36(5):443-446. PubMed ID: 31030429
[TBL] [Abstract][Full Text] [Related]
13. ASL mRNA-LNP Therapeutic for the Treatment of Argininosuccinic Aciduria Enables Survival Benefit in a Mouse Model.
Daly O; Mahiny AJ; Majeski S; McClintock K; Reichert J; Boros G; Szabó GT; Reinholz J; Schreiner P; Reid S; Lam K; Lepper M; Adler M; Meffen T; Heyes J; Karikó K; Lutwyche P; Vlatkovic I
Biomedicines; 2023 Jun; 11(6):. PubMed ID: 37371829
[TBL] [Abstract][Full Text] [Related]
14. Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures.
Diez-Fernandez C; Hertig D; Loup M; Diserens G; Henry H; Vermathen P; Nuoffer JM; Häberle J; Braissant O
J Inherit Metab Dis; 2019 Nov; 42(6):1077-1087. PubMed ID: 30907007
[TBL] [Abstract][Full Text] [Related]
15. Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
Engel K; Vuissoz JM; Eggimann S; Groux M; Berning C; Hu L; Klaus V; Moeslinger D; Mercimek-Mahmutoglu S; Stöckler S; Wermuth B; Häberle J; Nuoffer JM
J Inherit Metab Dis; 2012 Jan; 35(1):133-40. PubMed ID: 21667091
[TBL] [Abstract][Full Text] [Related]
16. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
Erez A; Nagamani SC; Lee B
Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):45-53. PubMed ID: 21312326
[TBL] [Abstract][Full Text] [Related]
17. Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.
Naylor SL; Klebe RJ; Shows TB
Proc Natl Acad Sci U S A; 1978 Dec; 75(12):6159-62. PubMed ID: 282632
[TBL] [Abstract][Full Text] [Related]
18. Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation.
Duff C; Islam M; Gagliano O; Pramod H; Rashidi H; Kurian MA; Gissen P; Baruteau J
Stem Cell Res; 2024 Apr; 76():103365. PubMed ID: 38422816
[TBL] [Abstract][Full Text] [Related]
19. To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening.
Heng TYJ; Ow JR; Koh AL; Lim JSC; Ong CBK; Goh JCY; Lim JY; Chiou FK; Jamuar SS
Clin Dysmorphol; 2024 Jan; 33(1):43-49. PubMed ID: 37865865
[TBL] [Abstract][Full Text] [Related]
20. Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria.
Ashley SN; Nordin JML; Buza EL; Greig JA; Wilson JM
Mol Genet Metab; 2018 Nov; 125(3):241-250. PubMed ID: 30253962
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
