{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T11:52:50Z","timestamp":1762429970307},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":5271,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In a retrospective survey done from 1978\u20131988 in Japan, 32 male patients with ornithine transcarbamylase (OTC) deficiency were identified. We classified a neonatal and 2 late\u2010onset groups, depending on clinical manifestations and the age at onset; group 1 (0\u201328 days; N = 10), group 2 (29 days\u20135 years; N = 13), and group 3 (&lt;5 years; N = 9). Compared to findings in the group 2 patients, there was a higher rate of mortality and a higher incidence of mental retardation in association with a great decrease in enzyme activity in group 1. In group 3, the mortality rate and enzyme activities were similar to those in group 1. However, patients in this group were asymptomatic prior to the first episode. Enzyme activities were measured mostly in autopsy samples. The serum citrulline levels (enzyme product) were highest in this group. Thus, the mutant enzymes were apparently labile with greater activities in vivo than in vitro. Treatments, including a protein\u2010restricted diet, arginine supplementation, and sodium benzoate administration, resulted in a favorable prognosis for survivors with partial enzyme deficiency. We wish to emphasize that the incidence of late onset of this disease is higher than heretofore considered.<\/jats:p>","DOI":"10.1002\/ajmg.1320380119","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:04:39Z","timestamp":1118549079000},"page":"85-89","source":"Crossref","is-referenced-by-count":40,"title":["Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty\u2010two Japanese male patients with ornithine transcarbamylase deficiency"],"prefix":"10.1002","volume":"38","author":[{"given":"I.","family":"Matsuda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Nagata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Matsuura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Oyanagi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Tada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Narisawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Kitagawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Sakiyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Yamashita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Yoshino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.5925\/jnsv1954.9.217"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80989-1"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0167-4838(82)90136-4"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)69923-5"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198406213102503"},{"key":"e_1_2_1_7_1","first-page":"629","volume-title":"The Metabolic Basis of Inherited Disease","author":"Brusilow SW","year":"1989"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198609183151207"},{"key":"e_1_2_1_9_1","first-page":"123","article-title":"Ornithine transcarbamylase deficiency resulting from a C\u2010to\u2010T substitution in exon 5 of the ornithine transcarbamylase gene","volume":"45","author":"Hata A","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a122265"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.292.6512.23"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02310869"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(86)92714-5"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114360"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/190372a0"},{"key":"e_1_2_1_16_1","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1542\/peds.48.4.595","article-title":"Hyperammonemia die to mutant enzyme of ornithine transcarbamylase","volume":"48","author":"Matsuda I","year":"1971","journal-title":"Pediatrics"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(89)90218-0"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01871248"},{"key":"e_1_2_1_19_1","first-page":"1041","article-title":"Carnitine status in Reye and Reye\u2010like syndromes","volume":"35","author":"Matsuda I","year":"1986","journal-title":"Pediatr Neurol"},{"key":"e_1_2_1_20_1","first-page":"1362","volume-title":"Mendelian Inheritance in Man. 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Autosomal Recessive, and X\u2010Linked Phenotypes","author":"McKusick VA","year":"1988"},{"key":"e_1_2_1_21_1","first-page":"526","article-title":"An enzymatic determination of ammonia in biological fluid","volume":"66","author":"Mondzac A","year":"1965","journal-title":"J Lab Clin Med"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198406073102304"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80321-4"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198602273140903"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1975.tb03866.x"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3603027"},{"key":"e_1_2_1_27_1","first-page":"402","volume-title":"The Metabolic Bases of Inherited Disease","author":"Walser M","year":"1983"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80025-X"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320380119","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320380119","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T03:24:11Z","timestamp":1698031451000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320380119"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,1]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1991,1]]}},"alternative-id":["10.1002\/ajmg.1320380119"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320380119","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,1]]}}}