{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T16:36:43Z","timestamp":1777480603207,"version":"3.51.4"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,2,25]],"date-time":"2015-02-25T00:00:00Z","timestamp":1424822400000},"content-version":"vor","delay-in-days":24,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2015,2]]},"abstract":"Abstract<\/jats:title>We report the case of a family with late\u2010onset ornithine transcarbamylase deficiency (OTCD<\/jats:styled-content>). Several family members had died from OTCD<\/jats:styled-content>, and the c.221G>A<\/jats:styled-content>, p.L<\/jats:styled-content>ys221L<\/jats:styled-content>ys mutation was detected at the 3\u2032 end of exon 6 of OTC<\/jats:styled-content><\/jats:italic> in the X<\/jats:styled-content>\u2010chromosome of some members. We provided genetic counseling on pregnancy, delivery, and neonate management to a 4th\u2010generation female carrier and decided on metabolic management of her child from birth. Two male patients were diagnosed with late\u2010onset OTCD<\/jats:styled-content> on the basis of blood amino acid and genetic analysis, and they received arginine supplementation from the asymptomatic, early neonatal period. These children grew and developed normally, without decompensation. Patients with late\u2010onset OTCD<\/jats:styled-content> can and should be diagnosed and treated in the early neonatal period, especially those from families already diagnosed with late\u2010onset OTCD<\/jats:styled-content>, and family members must be provided with genetic counseling.<\/jats:p>","DOI":"10.1111\/ped.12457","type":"journal-article","created":{"date-parts":[[2015,2,25]],"date-time":"2015-02-25T06:13:30Z","timestamp":1424844810000},"source":"Crossref","is-referenced-by-count":7,"title":["Early intervention for late\u2010onset ornithine transcarbamylase deficiency"],"prefix":"10.1111","volume":"57","author":[{"given":"Daisuke","family":"Fujisawa","sequence":"first","affiliation":[{"name":"Department of Pediatrics Kumamoto University Graduate School of Medical Sciences Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Mitsubuchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University Graduate School of Medical Sciences Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shirou","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University Graduate School of Medical Sciences Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masanori","family":"Iwai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University Graduate School of Medical Sciences Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimitoshi","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University Graduate School of Medical Sciences Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryuji","family":"Hoshide","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University Graduate School of Medical Sciences Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nawomi","family":"Harada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health Kurume University of Medicine Kurume Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makoto","family":"Yoshino","sequence":"additional","affiliation":[{"name":"Division of Gene Therapy and Regenerative Medicine, Cognitive and Molecular Research Institute of Brain Diseases Kurume University Kurume Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumio","family":"Endo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University Graduate School of Medical Sciences Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,2,25]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6494904"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.08.007"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970120)68:2<236::AID-AJMG23>3.0.CO;2-U"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.111837"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380110103"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9427-0"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-006-0143-y"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12457","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12457","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.12457","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T00:44:48Z","timestamp":1695516288000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.12457"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["10.1111\/ped.12457"],"URL":"https:\/\/doi.org\/10.1111\/ped.12457","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2]]}}}