{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T15:39:23Z","timestamp":1770478763751,"version":"3.49.0"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1994,8,8]],"date-time":"1994-08-08T00:00:00Z","timestamp":776304000000},"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":[[1995,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:italic>N<\/jats:italic>\u2010Acetylglutamate synthase (NAGS) deficiency is a rare, autosomal recessive urea\u2010cycle disease. Its clinical presentation is not different from the other hereditary hyperammonaemias. We report a new neonatal case with hyperammonaemic coma. A test by carbamylglutamate was performed at 25 days of life. Since then, the child was treated by carbamylglutamate three or four times a day with a total dose of 80\u2013100 mg\/kg per day. Today, the boy is 1 year old. He receives carbamylglutamate 200 mg four times a day. He has normal somatic and neurological development and good metabolic balance.<\/jats:p>","DOI":"10.1007\/bf00711374","type":"journal-article","created":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T08:43:56Z","timestamp":1101804236000},"page":"61-65","source":"Crossref","is-referenced-by-count":46,"title":["A new neonatal case of<i>N<\/i>\u2010acetylglutamate synthase deficiency treated by carbamylglutamate"],"prefix":"10.1002","volume":"18","author":[{"given":"N.","family":"Guffon","sequence":"first","affiliation":[{"name":"Centre d'\u00c9tude des Maladies M\u00e9taboliques H\u00f4pital Debrousse  Lyon C\u00e9dex 05 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Vianey\u2010Saban","sequence":"additional","affiliation":[{"name":"Centre d'\u00c9tude des Maladies M\u00e9taboliques H\u00f4pital Debrousse  Lyon C\u00e9dex 05 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Bourgeois","sequence":"additional","affiliation":[{"name":"R\u00e9animation\u2010N\u00e9onatologie H\u00f4pital Debrousse  Lyon C\u00e9dex 05 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Rabier","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie H\u00f4pital Necker  Paris C\u00e9dex 15 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. P.","family":"Colombo","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry University of Berne  Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Guibaud","sequence":"additional","affiliation":[{"name":"Centre d'\u00c9tude des Maladies M\u00e9taboliques H\u00f4pital Debrousse  Lyon C\u00e9dex 05 France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1994,8,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198102263040917"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799871"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02435986"},{"key":"e_1_2_1_5_1","first-page":"325","article-title":"N\u2010Acetylglutamate synthetase: enzyme assay in human liver","volume":"20","author":"Colombo JP","year":"1982","journal-title":"J Clin Chem Biochem"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/bms.1200141117"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02034751"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/26.3.473"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799936"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(89)90199-X"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01955939"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0885-4505(92)90006-K"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711374","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711374","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:02:42Z","timestamp":1694750562000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF00711374"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,8,8]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1995,1]]}},"alternative-id":["10.1007\/BF00711374"],"URL":"https:\/\/doi.org\/10.1007\/bf00711374","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,8,8]]}}}