136 related articles for article (PubMed ID: 36807131)
1. Coronary Vasospasm in a Patient With Argininosuccinic Aciduria.
Nagayoshi Y; Nakayama M; Nagano H; Morikawa K; Nishi M; Nishihara T; Sakaino N; Kawano H; Tsujita K; Mitsubuchi H
Am J Cardiol; 2023 Apr; 192():155-159. PubMed ID: 36807131
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Optimizing therapy for argininosuccinic aciduria.
Nagamani SC; Lee B; Erez A
Mol Genet Metab; 2012 Sep; 107(1-2):10-4. PubMed ID: 22841516
[TBL] [Abstract][Full Text] [Related]
4. Argininosuccinate lyase deficiency.
Nagamani SC; Erez A; Lee B
Genet Med; 2012 May; 14(5):501-7. PubMed ID: 22241104
[TBL] [Abstract][Full Text] [Related]
5. Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.
Baruteau J; Diez-Fernandez C; Lerner S; Ranucci G; Gissen P; Dionisi-Vici C; Nagamani S; Erez A; Häberle J
J Inherit Metab Dis; 2019 Nov; 42(6):1147-1161. PubMed ID: 30723942
[TBL] [Abstract][Full Text] [Related]
6. Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Elkhateeb N; Olivieri G; Siri B; Boyd S; Stepien KM; Sharma R; Morris AAM; Hartley T; Crowther L; Grunewald S; Cleary M; Mundy H; Chakrapani A; Lachmann R; Murphy E; Santra S; Uudelepp ML; Yeo M; Bernhardt I; Sudakhar S; Chan A; Mills P; Ridout D; Gissen P; Dionisi-Vici C; Baruteau J
Epilepsia; 2023 Jun; 64(6):1612-1626. PubMed ID: 36994644
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Hydrogen sulfide: in the aftermath of argininosuccinate lyase and nitric oxide deficiency.
Srilatha B; Meng J; Adaikan PG
Genet Med; 2012 Jun; 14(6):627; author reply 627-8. PubMed ID: 22669619
[No Abstract] [Full Text] [Related]
9. Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
Nagamani SC; Campeau PM; Shchelochkov OA; Premkumar MH; Guse K; Brunetti-Pierri N; Chen Y; Sun Q; Tang Y; Palmer D; Reddy AK; Li L; Slesnick TC; Feig DI; Caudle S; Harrison D; Salviati L; Marini JC; Bryan NS; Erez A; Lee B
Am J Hum Genet; 2012 May; 90(5):836-46. PubMed ID: 22541557
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. A mouse model of argininosuccinic aciduria: biochemical characterization.
Reid Sutton V; Pan Y; Davis EC; Craigen WJ
Mol Genet Metab; 2003 Jan; 78(1):11-6. PubMed ID: 12559843
[TBL] [Abstract][Full Text] [Related]
12. Experience with the treatment of argininosuccinic aciduria during pregnancy.
Reid L; Perreault E; Lafrance G; Clarke JT
J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S191-5. PubMed ID: 19585269
[TBL] [Abstract][Full Text] [Related]
13. Use of continuous hemodiafiltration for the treatment of a neonate with hyperammonemia secondary to argininosuccinate lyase (ASAL) deficiency.
Raturi S; Venkatesh IH; Nagesh NK; Venkatagiri P
Indian J Pediatr; 2013 Sep; 80(9):794-5. PubMed ID: 23539248
[No Abstract] [Full Text] [Related]
14. Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.
Kho J; Tian X; Wong WT; Bertin T; Jiang MM; Chen S; Jin Z; Shchelochkov OA; Burrage LC; Reddy AK; Jiang H; Abo-Zahrah R; Ma S; Zhang P; Bissig KD; Kim JJ; Devaraj S; Rodney GG; Erez A; Bryan NS; Nagamani SCS; Lee BH
Am J Hum Genet; 2018 Aug; 103(2):276-287. PubMed ID: 30075114
[TBL] [Abstract][Full Text] [Related]
15. [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]
16. Argininosuccinic Aciduria-A Rare Indication for Liver Transplant: Report of Two Cases.
Yankol Y; Mecit N; Kanmaz T; Acarli K; Kalayoglu M
Exp Clin Transplant; 2017 Oct; 15(5):581-584. PubMed ID: 26768012
[TBL] [Abstract][Full Text] [Related]
17. Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.
Baruteau J; Perocheau DP; Hanley J; Lorvellec M; Rocha-Ferreira E; Karda R; Ng J; Suff N; Diaz JA; Rahim AA; Hughes MP; Banushi B; Prunty H; Hristova M; Ridout DA; Virasami A; Heales S; Howe SJ; Buckley SMK; Mills PB; Gissen P; Waddington SN
Nat Commun; 2018 Aug; 9(1):3505. PubMed ID: 30158522
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA).
Beck NM; Johnston JP; Lemke KS; Pogacar P; Phornphutkul C
Med Health R I; 2011 May; 94(5):121-3. PubMed ID: 21710918
[No Abstract] [Full Text] [Related]
20. 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]
[Next] [New Search]
