{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T05:41:26Z","timestamp":1768282886055,"version":"3.49.0"},"reference-count":35,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,4,29]],"date-time":"2021-04-29T00:00:00Z","timestamp":1619654400000},"content-version":"am","delay-in-days":332,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2020,6]]},"DOI":"10.1016\/j.ymgme.2020.03.003","type":"journal-article","created":{"date-parts":[[2020,3,19]],"date-time":"2020-03-19T12:52:45Z","timestamp":1584622365000},"page":"110-117","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders"],"prefix":"10.1016","volume":"130","author":[{"given":"Cl\u00e9ment","family":"Pontoizeau","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9lina","family":"Roda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Baptiste","family":"Arnoux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Vignolo-Diard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anais","family":"Brassier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florence","family":"Habarou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Barbier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Coraline","family":"Grisel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie-Th\u00e9r\u00e8se","family":"Abi-Warde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Boddaert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Kuster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aude","family":"Servais","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Kaminska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carole","family":"Hennequin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"Dupic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabrice","family":"Lesage","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"Touati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vassili","family":"Valayannopoulos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernadette","family":"Chadefaux-Vekemans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehdi","family":"Oualha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Eisermann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chris","family":"Ottolenghi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascale","family":"de Lonlay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2020.03.003_bb0005","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1007\/s00431-003-1188-9","article-title":"Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation","volume":"162","author":"Bachmann","year":"2003","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0010","doi-asserted-by":"crossref","first-page":"3505","DOI":"10.1038\/s41467-018-05972-1","article-title":"Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer","volume":"9","author":"Baruteau","year":"2018","journal-title":"Nat. Commun."},{"issue":"6","key":"10.1016\/j.ymgme.2020.03.003_bb0015","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1002\/jimd.12047","article-title":"Argininosuccinic aciduria: recent pathophysiological insights and therapeutic prospects","volume":"42","author":"Baruteau","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0020","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.ymgme.2014.08.001","article-title":"A longitudinal study of urea cycle disorders","volume":"113","author":"Batshaw","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0025","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1007\/s10545-012-9546-2","article-title":"Ammonia toxicity to the brain","volume":"36","author":"Braissant","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0030","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1186\/s13023-015-0266-1","article-title":"Long-term outcomes in ornithine Transcarbamylase deficiency: a series of 90 patients","volume":"10","author":"Brassier","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0035","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1159\/000013400","article-title":"Continuous venovenous hemodiafiltration in the treatment of acute hyperammonemia","volume":"18","author":"Braun","year":"1998","journal-title":"Am. J. Nephrol."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0040","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1177\/088307389901400810","article-title":"Electroencephalographic findings in ornithine transcarbamylase deficiency","volume":"14","author":"Brunquell","year":"1999","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0045","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1007\/s10545-015-9901-1","article-title":"Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders\u2014review and meta-analysis of observational studies published over more than 35 years","volume":"39","author":"Burgard","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0050","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1186\/s13023-014-0105-9","article-title":"Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-clues for early diagnosis and timely treatment","volume":"9","author":"Cavicchi","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0055","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1203\/00006450-199301000-00016","article-title":"Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency","volume":"33","author":"Connelly","year":"1993","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0060","doi-asserted-by":"crossref","first-page":"2282","DOI":"10.1056\/NEJMoa066596","article-title":"Survival after treatment with phenylacetate and benzoate for urea-cycle disorders","volume":"356","author":"Enns","year":"2007","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0065","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1037\/a0024338","article-title":"Effect size estimates: current use, calculations, and interpretation","volume":"141","author":"Fritz","year":"2012","journal-title":"J. Exp. Psychol. Gen."},{"issue":"6","key":"10.1016\/j.ymgme.2020.03.003_bb0070","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1002\/jimd.12100","article-title":"Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision","volume":"42","author":"H\u00e4berle","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0075","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1186\/s13023-016-0513-0","article-title":"Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study","volume":"11","author":"Husson","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0080","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1007\/s10545-011-9427-0","article-title":"Long-term outcome and intervention of urea cycle disorders in Japan","volume":"35","author":"Kido","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0085","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1007\/s10545-015-9840-x","article-title":"The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype","volume":"38","author":"K\u00f6lker","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0090","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1038\/gim.2014.148","article-title":"Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder","volume":"17","author":"Lee","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0095","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.ymgme.2015.11.005","article-title":"Glutamine and hyperammonemic crises in patients with urea cycle disorders","volume":"117","author":"Lee","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0100","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2019.10.043","article-title":"ASL metabolically regulates tyrosine hydroxylase in the nucleus locus coeruleus","volume":"29","author":"Lerner","year":"2019","journal-title":"Cell Rep."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0105","doi-asserted-by":"crossref","first-page":"1500","DOI":"10.1056\/NEJM198406073102304","article-title":"Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies","volume":"310","author":"Msall","year":"1984","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0115","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1186\/s13023-017-0661-x","article-title":"Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland","volume":"12","author":"Nettesheim","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0120","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.ymgme.2014.05.005","article-title":"Advances in urea cycle neuroimaging: proceedings from the 4th international symposium on urea cycle disorders, Barcelona, Spain, September 2013","volume":"113","author":"Pacheco-Col\u00f3n","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0125","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1007\/s10545-016-9938-9","article-title":"Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders","volume":"39","author":"Posset","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0130","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s10545-013-9624-0","article-title":"Cross-sectional observational study of 208 patients with non-classical urea cycle disorders","volume":"37","author":"R\u00fcegger","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0135","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.ymgme.2013.07.008","article-title":"The incidence of urea cycle disorders","volume":"110","author":"Summar","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0140","first-page":"1184","article-title":"Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders","volume":"24","author":"Takanashi","year":"2003","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0145","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1038\/nm.3400","article-title":"Ammonia triggers neuronal disinhibition and seizures by impairing astrocyte potassium buffering","volume":"19","author":"Thrane","year":"2013","journal-title":"Nat. Med."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0150","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1097\/WNP.0b013e3182872b24","article-title":"American clinical neurophysiology society standardized EEG terminology and categorization for the description of continuous EEG monitoring in neonates: report of the American Clinical Neurophysiology Society critical care monitoring committee","volume":"30","author":"Tsuchida","year":"2013","journal-title":"J. Clin. Neurophysiol."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0155","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.ymgme.2008.05.004","article-title":"Cross-sectional multicenter study of patients with urea cycle disorders in the United States","volume":"94","author":"Tuchman","year":"2008","journal-title":"Mol. Genet. Metab."},{"issue":"Suppl. 1","key":"10.1016\/j.ymgme.2020.03.003_bb0160","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1023\/A:1005374027693","article-title":"Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan","volume":"21","author":"Uchino","year":"1998","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0165","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1186\/s13023-016-0493-0","article-title":"Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013","volume":"11","author":"Unsinn","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0170","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/0013-4694(84)90168-8","article-title":"Electroencephalographic findings in urea-cycle disorders","volume":"57","author":"Verma","year":"1984","journal-title":"Electroencephalogr. Clin. Neurophysiol."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0175","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1007\/s10545-017-0132-5","article-title":"Biochemical markers and neuropsychological functioning in distal urea cycle disorders","volume":"41","author":"Waisbren","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2020.03.003_bb0180","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.ymgme.2018.08.011","article-title":"The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism","volume":"125","author":"Wiwattanadittakul","year":"2018","journal-title":"Mol. Genet. Metab."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719220300627?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719220300627?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T23:24:31Z","timestamp":1761089071000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719220300627"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6]]},"references-count":35,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,6]]}},"alternative-id":["S1096719220300627"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2020.03.003","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2020,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2020.03.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}