{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T09:46:48Z","timestamp":1777801608441,"version":"3.51.4"},"reference-count":24,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[1995,3,1]],"date-time":"1995-03-01T00:00:00Z","timestamp":794016000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[1995,3]]},"abstract":"<jats:p>Hydroxyglutaric aciduria is detected by gas chromatographic-mass spectrometric analysis, and the D and L forms are quantified by chemical ionization with deuterated internal standards. Patients have recently been described who accumulate the D form, and they appear to be quite different from those with the more common L form. Experience is reported with three patients and an animal model with D-2-hydroxyglutaric aciduria. The phenotype appears to include mental retardation, macrocephaly, hypotonia, seizures, and involuntary movements, although neurologic and systemic manifestations of the disorder varied considerably between individual patients, even within the same family. (J Child Neurol 1995;10:137-142).<\/jats:p>","DOI":"10.1177\/088307389501000216","type":"journal-article","created":{"date-parts":[[2008,12,24]],"date-time":"2008-12-24T02:13:25Z","timestamp":1230084805000},"page":"137-142","source":"Crossref","is-referenced-by-count":48,"title":["D-2-Hydroxyglutaric Aciduria"],"prefix":"10.1177","volume":"10","author":[{"given":"William L.","family":"Nyhan","sequence":"first","affiliation":[{"name":"Department of Pediatrics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. Diane","family":"Shelton","sequence":"additional","affiliation":[{"name":"Pathology, University of California San Diego, La Jolla"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelis","family":"Jakobs","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Free University Hospital, Amsterdam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bonnie","family":"Holmes","sequence":"additional","affiliation":[{"name":"Department of Pediatrics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Constance","family":"Bowe","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California Davis, Sacramento"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia J.R.","family":"Curry","sequence":"additional","affiliation":[{"name":"Valley Children's Hospital, Fresno"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol","family":"Vance","sequence":"additional","affiliation":[{"name":"Valley Children's Hospital, Fresno"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marinus","family":"Duran","sequence":"additional","affiliation":[{"name":"Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lawrence","family":"Sweetman","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory, Los Angeles Children's Hospital, Los Angeles, CA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[1995,3,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02312516"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711664"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(94)90067-1"},{"key":"atypb4","volume-title":"Proceedings of the European Federation of Child Neurology Societies","author":"Loonen MCB"},{"key":"atypb5","first-page":"833","volume":"10","author":"Jacobs C.","year":"1993","journal-title":"Monatschr Kinderheilk"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410320111"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711907"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711665"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711666"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1007\/BF00714285"},{"key":"atypb11","volume-title":"Proceedings of the 31st SSIEM Annual Symposium","author":"Cardoso ML"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/35.4.587"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199309000-00007"},{"key":"atypb14","unstructured":"Nyhan WL: Abnormalities in Amino Acid Metabolism in Clinical Medicine. Norwalk, CT, Appleton Century Crofts, 1984, pp 5-6."},{"key":"atypb15","volume-title":"Proceedings of the 31st SSIEM Annual Symposium","author":"Huijmans JGM"},{"key":"atypb16","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1542\/peds.88.6.1194","volume":"88","author":"Hoffmann GF","year":"1991","journal-title":"Pediatrics"},{"key":"atypb17","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(93)90002-P"},{"key":"atypb18","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442325"},{"key":"atypb19","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)37472-6"},{"key":"atypb20","doi-asserted-by":"publisher","DOI":"10.1007\/BF01805436"},{"key":"atypb21","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711902"},{"key":"atypb22","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1980.tb04590.x"},{"key":"atypb23","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/0003-9861(68)90103-3","volume":"123","author":"Wegener WAS","year":"1968","journal-title":"Arch Biochem Biophys"},{"key":"atypb24","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)50753-5"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307389501000216","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307389501000216","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:30:51Z","timestamp":1777494651000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/088307389501000216"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,3]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,3]]}},"alternative-id":["10.1177\/088307389501000216"],"URL":"https:\/\/doi.org\/10.1177\/088307389501000216","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,3]]}}}