{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,23]],"date-time":"2023-11-23T12:43:40Z","timestamp":1700743420015},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1983,1,19]],"date-time":"1983-01-19T00:00:00Z","timestamp":411782400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1983,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An unusual form of ornithine transcarbamylase deficiency was found in a male child who became unconscious at 8 months. Two maternal uncles had died during similar illnesses at 6 years and 11 years, respectively. Detailed studies of the enzyme showed 10% residual activity, a very low<jats:italic>K<\/jats:italic><jats:sub>m<\/jats:sub> for carbamyl phosphate (0.015 mmol\/l) and near normal amounts of immunoreactive protein with a smaller than normal subunit (molecular weight 37 800 instead of 39 700). This information was obtained from a 10 mg liver biopsy core using protein separation on SDS\u2010polyacrylamide gel, electrophoretic transfer to nitrocellulose filters and probing with antibody to the enzyme. Resolution of the exact mutation causing this change will be of interest to those who are studying the processing of mitochondrial enzymes during transport from the cytoplasm.<\/jats:p>","DOI":"10.1007\/bf02310869","type":"journal-article","created":{"date-parts":[[2006,2,15]],"date-time":"2006-02-15T15:54:22Z","timestamp":1140018862000},"page":"149-152","source":"Crossref","is-referenced-by-count":5,"title":["Immunological evidence for an ornithine transcarbamylase lesion resulting in the formation of enzyme with smaller protein subunits"],"prefix":"10.1002","volume":"6","author":[{"given":"N.","family":"Hoogenraad","sequence":"first","affiliation":[{"name":"Department of Biochemistry La Trobe University  Bundoora Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Luisa de Martinis","sequence":"additional","affiliation":[{"name":"Department of Biochemistry La Trobe University  Bundoora Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. M.","family":"Danks","sequence":"additional","affiliation":[{"name":"Birth Defects Research Institute Royal Children's Hospital  Flemington Road Parkville Victoria 3052 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1983,1,19]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(80)90182-7"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.157.3796.1581"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(81)80666-7"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0167-4838(82)90136-4"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(81)90281-5"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.76.11.5724"},{"key":"e_1_2_1_8_1","first-page":"371","article-title":"A rapid, batch method for purifying ornithine transcarbamylase based on affinity chromatography using immobilized transition\u2010state analog","volume":"3","author":"De Martinis M. L.","year":"1981","journal-title":"Biochem. Int."},{"key":"e_1_2_1_9_1","first-page":"142","article-title":"Hereditary hyperammonaemia syndrome\u2014a six year experience","volume":"15","author":"Haan E. A.","year":"1979","journal-title":"Aust. Pediatr. J."},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(80)90045-7"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(19)32902-6"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/227680a0"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.10.6056"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a133158"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.12.7044"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(80)90386-1"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1982.tb06465.x"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.76.7.3116"},{"key":"e_1_2_1_19_1","first-page":"3","volume-title":"Clinics in Perinatology","author":"Shih V. E.","year":"1976"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(74)91819-4"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF02310869","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF02310869","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T05:47:56Z","timestamp":1694843276000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF02310869"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,1,19]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1983,12]]}},"alternative-id":["10.1007\/BF02310869"],"URL":"https:\/\/doi.org\/10.1007\/bf02310869","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,1,19]]}}}