{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T12:07:01Z","timestamp":1783426021083,"version":"3.54.6"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,12,30]],"date-time":"2003-12-30T00:00:00Z","timestamp":1072742400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2004,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We compared neurocognitive indices with clinical status, mutation analysis, and urea synthetic capacity in 19 women heterozygous for ornithine transcarbamylase deficiency. Although as a group, these women had average IQ scores, they displayed a specific neuropsychological phenotype with significant strengths in verbal intelligence, verbal learning, verbal memory, and reading, and significant weaknesses in fine motor dexterity\/speed and nonsignificant weaknesses in nonverbal intelligence, visual memory, attention\/executive skills, and math. This suggests selective vulnerability of white matter and better preservation of gray matter. When the group was divided into symptomatic and asymptomatic subgroups, based on either clinical history or residual urea synthetic capacity, the asymptomatic subgroup outperformed the symptomatic subgroup on all tested domains of neuropsychological functioning. Furthermore, the amount of residual urea synthetic capacity was predictive of several end point cognitive measures. There was no correlation between neonatal versus late\u2010onset mutation or between normal or abnormal allopurinol challenge and neuropsychological outcome. In sum, we identified a specific metabolic and neurocognitive phenotype in women heterozygous for ornithine transcarbamylase deficiency. The findings support the importance of maintaining meticulous metabolic control in children with urea cycle disorders, because even mildly symptomatic subjects demonstrate cognitive deficits.<\/jats:p>","DOI":"10.1002\/ana.10794","type":"journal-article","created":{"date-parts":[[2003,12,31]],"date-time":"2003-12-31T09:34:51Z","timestamp":1072863291000},"page":"80-86","source":"Crossref","is-referenced-by-count":86,"title":["Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency"],"prefix":"10.1002","volume":"55","author":[{"given":"Kunsang","family":"Gyato","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Wray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z. J.","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Yudkoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark L.","family":"Batshaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,12,30]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390226"},{"key":"e_1_2_5_3_2","first-page":"127","volume-title":"Advances in pediatrics","author":"Brusilow S","year":"1996"},{"key":"e_1_2_5_4_2","first-page":"1909","volume-title":"Urea cycle enzymes in the metabolic and molecular bases of inherited disease","author":"Brusilow SW","year":"2001"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.122394"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198406073102304"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198602273140903"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198612000-00025"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199609193351204"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199811000-00005"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI119023"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198002283020902"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1089\/10430349950017068"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199006073222305"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80989-1"},{"key":"e_1_2_5_17_2","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1203\/00006450-199211000-00024","article-title":"Six new mutations in the ornithine transcarbamylase gene detected by single\u2010strand conformation polymorphism","volume":"32","author":"Tuchman M","year":"1992","journal-title":"Pediatric Res"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1021\/ar950262j"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005353407220"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10035"},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(94)90119-8"},{"key":"e_1_2_5_22_2","first-page":"191","article-title":"Neuropsychological and neuroimaging aspects of latent hepatic encephalopathy (LHE)","volume":"2","author":"O'Carroll R","year":"1993","journal-title":"Alcohol Alcohol"},{"key":"e_1_2_5_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410350204"},{"key":"e_1_2_5_24_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198206103062303"},{"key":"e_1_2_5_25_2","first-page":"10","article-title":"Severe cerebral damage in ornithine transcarbamylase deficiency","volume":"7","author":"Dolman CL","year":"1988","journal-title":"Clin Neuropathol"},{"key":"e_1_2_5_26_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00687006"},{"key":"e_1_2_5_27_2","doi-asserted-by":"publisher","DOI":"10.1080\/01688638208401112"},{"key":"e_1_2_5_28_2","doi-asserted-by":"publisher","DOI":"10.1177\/002221948902200309"},{"key":"e_1_2_5_29_2","volume-title":"Syndrome of nonverbal learning disabilities","author":"Rourke BP","year":"1995"},{"key":"e_1_2_5_30_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320600308"},{"key":"e_1_2_5_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/s0387-7604(02)00153-5"},{"key":"e_1_2_5_32_2","doi-asserted-by":"publisher","DOI":"10.1007\/s002340050351"},{"key":"e_1_2_5_33_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199301000-00016"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.10794","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.10794","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T02:25:24Z","timestamp":1695954324000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.10794"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,12,30]]},"references-count":32,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,1]]}},"alternative-id":["10.1002\/ana.10794"],"URL":"https:\/\/doi.org\/10.1002\/ana.10794","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,12,30]]}}}