124 related articles for article (PubMed ID: 38044746)
1. The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
Gurung S; Karamched S; Perocheau D; Seunarine KK; Baldwin T; Alrashidi H; Touramanidou L; Duff C; Elkhateeb N; Stepien KM; Sharma R; Morris A; Hartley T; Crowther L; Grunewald S; Cleary M; Mundy H; Chakrapani A; Batzios S; Davison J; Footitt E; Tuschl K; Lachmann R; Murphy E; Santra S; Uudelepp ML; Yeo M; Finn PF; Cavedon A; Siddiqui S; Rice L; Martini PGV; Frassetto A; Heales S; Mills PB; Gissen P; Clayden JD; Clark CA; Eaton S; Kalber TL; Baruteau J
J Inherit Metab Dis; 2023 Dec; ():. PubMed ID: 38044746
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.
Gurung S; Timmermand OV; Perocheau D; Gil-Martinez AL; Minnion M; Touramanidou L; Fang S; Messina M; Khalil Y; Spiewak J; Barber AR; Edwards RS; Pinto PL; Finn PF; Cavedon A; Siddiqui S; Rice L; Martini PGV; Ridout D; Heywood W; Hargreaves I; Heales S; Mills PB; Waddington SN; Gissen P; Eaton S; Ryten M; Feelisch M; Frassetto A; Witney TH; Baruteau J
Sci Transl Med; 2024 Jan; 16(729):eadh1334. PubMed ID: 38198573
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report.
Osawa Y; Wada A; Ohtsu Y; Yamada K; Takizawa T
Mol Genet Metab Rep; 2020 Sep; 24():100605. PubMed ID: 32435591
[TBL] [Abstract][Full Text] [Related]
6. Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Baruteau J; Jameson E; Morris AA; Chakrapani A; Santra S; Vijay S; Kocadag H; Beesley CE; Grunewald S; Murphy E; Cleary M; Mundy H; Abulhoul L; Broomfield A; Lachmann R; Rahman Y; Robinson PH; MacPherson L; Foster K; Chong WK; Ridout DA; Bounford KM; Waddington SN; Mills PB; Gissen P; Davison JE
J Inherit Metab Dis; 2017 May; 40(3):357-368. PubMed ID: 28251416
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.
Kim D; Ko JM; Kim YM; Seo GH; Kim GH; Lee BH; Yoo HW
J Hum Genet; 2018 Jul; 63(8):911-917. PubMed ID: 29773863
[TBL] [Abstract][Full Text] [Related]
17. Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children.
Chen BC; Ngu LH; Zabedah MY
Malays J Pathol; 2010 Dec; 32(2):87-95. PubMed ID: 21329179
[TBL] [Abstract][Full Text] [Related]
18. Late-onset argininosuccinic aciduria in a 72-year-old man presenting with fatal hyperammonemia.
Leuger L; Dieu X; Chao de la Barca JM; Moriconi M; Halley G; Donin de Rosière X; Reynier P; Mirebeau-Prunier D; Homedan C
JIMD Rep; 2021 Nov; 62(1):44-48. PubMed ID: 34765397
[TBL] [Abstract][Full Text] [Related]
19. Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.
Ganetzky RD; Bedoukian E; Deardorff MA; Ficicioglu C
JIMD Rep; 2017; 34():43-47. PubMed ID: 27515243
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]