{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T11:46:50Z","timestamp":1777636010548,"version":"3.51.4"},"reference-count":46,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2004,4,1]],"date-time":"2004-04-01T00:00:00Z","timestamp":1080777600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2004,4]]},"DOI":"10.1016\/j.ymgme.2003.11.016","type":"journal-article","created":{"date-parts":[[2004,2,17]],"date-time":"2004-02-17T10:08:37Z","timestamp":1077012517000},"page":"58-62","source":"Crossref","is-referenced-by-count":86,"special_numbering":"S","title":["Cognitive outcome in urea cycle disorders"],"prefix":"10.1016","volume":"81","author":[{"given":"Andrea L","family":"Gropman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark L","family":"Batshaw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2003.11.016_BIB1","series-title":"The Metabolic and Metabolic Bases of Inherited Disease","first-page":"1909","article-title":"Urea cycle enzymes","author":"Brusilow","year":"2001"},{"key":"10.1016\/j.ymgme.2003.11.016_BIB2","first-page":"332","article-title":"X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase","volume":"28","author":"Ricciuti","year":"1976","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB3","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1126\/science.6494904","article-title":"Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus","volume":"226","author":"Lindgren","year":"1984","journal-title":"Science"},{"key":"10.1016\/j.ymgme.2003.11.016_BIB4","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/S0065-3101(24)00072-0","article-title":"Urea cycle disorders: diagnosis, pathophysiology and therapy","volume":"43","author":"Brusilow","year":"1996","journal-title":"Adv. Pediatr."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB5","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/S0022-3476(99)70448-8","article-title":"Neonatal onset ornithine transcarbamylase deficiency","volume":"134","author":"Maestri","year":"1999","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB6","doi-asserted-by":"crossref","first-page":"1500","DOI":"10.1056\/NEJM198406073102304","article-title":"Neurologic outcome in children with inborn errors of urea synthesis","volume":"310","author":"Msall","year":"1984","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB7","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.2003.11.016_BIB8","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1007\/s00431-003-1347-z","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.2003.11.016_BIB9","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/S0022-3476(86)80989-1","article-title":"The risk of serious illness in carriers of ornithine transcarbamylase deficiency","volume":"108","author":"Batshaw","year":"1986","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB10","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1111\/j.1442-200X.1988.tb02534.x","article-title":"Cognitive development in Children with inborn errors of urea synthesis","volume":"30","author":"Msall","year":"1988","journal-title":"Acta Paediatr. Jpn."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB11","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1002\/(SICI)1096-8628(19970120)68:2<236::AID-AJMG23>3.0.CO;2-U","article-title":"Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family","volume":"68","author":"Ausems","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB12","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1056\/NEJM198002283020902","article-title":"Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency","volume":"302","author":"Batshaw","year":"1980","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB13","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1002\/ana.10794","article-title":"Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency","volume":"55","author":"Gyato","year":"2004","journal-title":"Ann. Neurol."},{"issue":"Suppl. 1","key":"10.1016\/j.ymgme.2003.11.016_BIB14","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1023\/A:1005393104494","article-title":"Effects of hyperammonaemia on brain function","volume":"21","author":"Butterworth","year":"1998","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB15","doi-asserted-by":"crossref","first-page":"9810","DOI":"10.1523\/JNEUROSCI.22-22-09810.2002","article-title":"Ammonium-induced impairment of axonal growth is prevented through glial creatinine","volume":"22","author":"Braissant","year":"2002","journal-title":"J. Neurosci."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB16","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1515\/CCLM.2002.112","article-title":"Mechanisms of hyperammonemia","volume":"40","author":"Bachmann","year":"2002","journal-title":"Clin. Chem. Lab. Med."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB17","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1016\/0306-4522(95)00462-9","article-title":"Inhibition of glutamine synthetase reduces ammonia-induced astrocyte swelling in rat","volume":"71","author":"Willard-Mack","year":"1996","journal-title":"Neuroscience"},{"key":"10.1016\/j.ymgme.2003.11.016_BIB18","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.2003.11.016_BIB19","first-page":"834","article-title":"Localized proton MR spectroscopy in infants with urea cycle defect","volume":"22","author":"Choi","year":"2001","journal-title":"Am. J. Neuroradiol."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB20","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1203\/00006450-198404000-00014","article-title":"Increase of tryptophan and 5-hydroxyindole acetic acid in the brain of ornithine carbamoyltransferase deficient sparse-fur mice","volume":"18","author":"Bachmann","year":"1984","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB21","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1002\/ana.410340509","article-title":"Quinolinic acid in children with congenital hyperammonemia","volume":"34","author":"Batshaw","year":"1993","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB22","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/0165-3806(96)83484-5","article-title":"Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse","volume":"90","author":"Robinson","year":"1995","journal-title":"Brain Res. Dev. Brain Res."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB23","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/S0022-3476(86)81046-0","article-title":"Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria","volume":"108","author":"Hyman","year":"1986","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB24","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/S0022-3476(87)80121-X","article-title":"Behavior management of feeding disturbances in urea cycle and organic acid disorders","volume":"111","author":"Hyman","year":"1987","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB25","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/BF02081030","article-title":"Loss of [3H]MK801 binding sites in brain in congenital ornithine transcarbamylase deficiency","volume":"10","author":"Ratnakumari","year":"1995","journal-title":"Metab. Brain Dis."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB26","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1007\/BF02680015","article-title":"Evidence for forebrain cholinergic neuronal loss in congenital ornithine transcarbamylase deficiency","volume":"15","author":"Butterworth","year":"2000","journal-title":"Metab. Brain Dis."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB27","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0045-9380(84)90047-1","article-title":"Hyperammonemia","volume":"14","author":"Batshaw","year":"1984","journal-title":"Curr. Probl. Pediatr."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB28","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1136\/adc.63.11.1363","article-title":"Late onset ornithine carbomyl transferase deficiency in males","volume":"63","author":"Drogari","year":"1988","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB29","doi-asserted-by":"crossref","first-page":"235","DOI":"10.3109\/15513819409024257","article-title":"Histopathological findings in a male with late-onset ornithine transcarbamylase deficiency","volume":"14","author":"Capistrano-Estrada","year":"1994","journal-title":"Pediatr. Pathol."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB30","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/BF02674610","article-title":"Ornithine transcarbamylase deficiency: pathogenesis of the cerebral disorder and new prospects for therapy","volume":"12","author":"Michalak","year":"1997","journal-title":"Metab. Brain Dis."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB31","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1016\/S0022-3476(86)80935-0","article-title":"Ornithine transcarbamylase deficiency: neuropathologic changes in acquired in utero","volume":"108","author":"Filloux","year":"1986","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB32","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1016\/S0022-3476(05)83044-6","article-title":"Prospective treatment of urea cycle disorders","volume":"119","author":"Maestri","year":"1991","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB33","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1136\/jnnp.46.1.28","article-title":"Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency","volume":"46","author":"Kendall","year":"1983","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.ymgme.2003.11.016_BIB34","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/S0387-7604(84)80011-X","article-title":"A female case of ornithine transcarbamylase deficiency with marked computed tomographic abnormalities of the brain","volume":"6","author":"Takayanagi","year":"1984","journal-title":"Brain Dev."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB35","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0022-3476(05)83432-8","article-title":"Ornithine transcarbamylase deficiency presenting with strokelike episodes","volume":"122","author":"Christodoulou","year":"1993","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB36","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/s0387-7604(02)00153-5","article-title":"Magnetic resonance imaging in late-onset ornithine transcarbamylase deficiency","volume":"25","author":"Kurihara","year":"2003","journal-title":"Brain Dev."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB37","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1212\/WNL.59.2.210","article-title":"Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency","volume":"59","author":"Takanashi","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2003.11.016_BIB38","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1056\/NEJM198206103062303","article-title":"Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion","volume":"306","author":"Batshaw","year":"1982","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB39","series-title":"The Diagnosis of Stupor and Coma Edition 3","author":"Plum","year":"1982"},{"key":"10.1016\/j.ymgme.2003.11.016_BIB40","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1056\/NEJM198602273140903","article-title":"Natural history of symptomatic partial ornithine transcarbamylase deficiency","volume":"314","author":"Rowe","year":"1986","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB41","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/(SICI)1096-8628(19961218)66:3<311::AID-AJMG14>3.0.CO;2-P","article-title":"Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation","volume":"66","author":"Ahrens","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB42","doi-asserted-by":"crossref","first-page":"1652","DOI":"10.1056\/NEJM199006073222307","article-title":"Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus","volume":"322","author":"Arn","year":"1990","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB43","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1056\/NEJM199609193351204","article-title":"Long-term treatment of girls with ornithine transcarbamylase deficiency","volume":"335","author":"Maestri","year":"1996","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB44","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1097\/00005792-199811000-00005","article-title":"The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency","volume":"77","author":"Maestri","year":"1998","journal-title":"Medicine"},{"key":"10.1016\/j.ymgme.2003.11.016_BIB45","doi-asserted-by":"crossref","first-page":"2167","DOI":"10.1172\/JCI119023","article-title":"In vivo nitrogen metabolism in ornithine transcarbamylase deficiency","volume":"98","author":"Yudkoff","year":"1996","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2003.11.016_BIB46","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1023\/A:1005345205403","article-title":"In vivo measurement of ureagenesis with stable isotopes","volume":"21","author":"Yudkoff","year":"1998","journal-title":"J. Inherit. Metab. Dis."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719204000149?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719204000149?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,1,12]],"date-time":"2024-01-12T13:28:49Z","timestamp":1705066129000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719204000149"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,4]]},"references-count":46,"alternative-id":["S1096719204000149"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2003.11.016","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2004,4]]}}}