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arginosuccinicaciduria相关文献:
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. doi: 10.1002/jimd.12047. Epub 2019 Feb 5.
PMID:30723942
Argininosuccinic aciduria: from a monogenic to a complex disorder.
Erez A.
Genet Med. 2013 Apr;15(4):251-7. doi: 10.1038/gim.2012.166. Epub 2013 Jan 10.
PMID:23306800
Optimizing therapy for argininosuccinic aciduria.
Nagamani SC, Lee B, Erez A.
Mol Genet Metab. 2012 Sep;107(1-2):10-4. doi: 10.1016/j.ymgme.2012.07.009. Epub 2012 Jul 20.
PMID:22841516
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
Erez A, Nagamani SC, Lee B.
Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):45-53. doi: 10.1002/ajmg.c.30289. Epub 2011 Feb 10.
PMID:21312326
[Aciduria, argininosuccinic].
Matsuura T.
Ryoikibetsu Shokogun Shirizu. 2001;(33):103-5.
PMID:11462352
Hyperammonemia in review: pathophysiology, diagnosis, and treatment.
Auron A, Brophy PD.
Pediatr Nephrol. 2012 Feb;27(2):207-22. doi: 10.1007/s00467-011-1838-5. Epub 2011 Mar 23.
PMID:21431427
Epilepsy and argininosuccinic aciduria.
Grioni D, Furlan F, Corbetta C, Barboni C, Lastrico A, Marzocchi GM, Contri M, Gamba A, Vizziello P, Parini R.
Neuropediatrics. 2011 Jun;42(3):97-103. doi: 10.1055/s-0031-1280795. Epub 2011 Jul 8.
PMID:21744316
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. doi: 10.1111/epi.17596. Epub 2023 Apr 10.
PMID:36994644
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 29;9(1):3505. doi: 10.1038/s41467-018-05972-1.
PMID:30158522
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 10;16(729):eadh1334. doi: 10.1126/scitranslmed.adh1334. Epub 2024 Jan 10.
PMID:38198573
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