{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:27:32Z","timestamp":1777868852622,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Enzyme"],"abstract":"<jats:p>Western blot analysis of 19 human ornithine transcarbamoylase (OTC) deficiencies\ncharacterized by neonatal (13 patients: type I) or later onset of symptoms (6 patients:\ntype II) are reported. All the patients studied here are hemizygous males. In the first group,\nmost of the patients had no residual enzymatic activity (11 patients). In 8 cases this is\ncorrelated with a complete absence of protein, in 1 patient with a much reduced amount and\nin 2 others with 80% of an OTC-related protein of normal molecular weight. Only 2 patients\nwith neonatal onset of symptoms had a detectable OTC activity which ranged from 0.5 to 1 %\nof the control. Among the second clinical group of 6 patients with later onset of symptoms,\nthe residual OTC activity was between 5 and 20% at pH 8.0; 3 of them had abnormal kinetics\nand 50% an OTC-related protein.<\/jats:p>","DOI":"10.1159\/000469142","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T17:21:52Z","timestamp":1502472112000},"page":"51-56","source":"Crossref","is-referenced-by-count":6,"title":["Immunochemical Analysis of Nineteen Ornithine\nTranscarbamoylase Deficiencies"],"prefix":"10.1159","author":[{"given":"c.","family":"Cavard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Cathelineua","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Daniel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Briand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2017,8,11]]},"container-title":["Enzyme"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000469142","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:47:01Z","timestamp":1777553221000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000469142"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,11]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000469142","archive":["Portico"],"relation":{},"ISSN":["0013-9432","2504-2564"],"issn-type":[{"value":"0013-9432","type":"print"},{"value":"2504-2564","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,11]]}}}