{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T12:16:50Z","timestamp":1754396210105},"reference-count":3,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[1984,3,1]],"date-time":"1984-03-01T00:00:00Z","timestamp":446947200000},"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":[[1984,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We review the outcome of patients with maple syrup urine disease (14 classical patients and three variants), biotinidase deficiency (two patients) and non\u2010cofactor\u2010responsive variants of methylmalonic acidaemia (eight patients), propionic acidaemia (eight patients) and isolated 3\u2010methylcrotonyl CoA carboxylase deficiency (three patients). Their survival, growth, intellectual development and other clinical problems are analysed. With the exception of isolated 3\u2010methylcrotonyl CoA carboxylase deficiency the outcome of patients with disorders that are not cofactor responsive is disappointing. Twelve patients have died (five maple syrup urine disease, two methylmalonic acidaemia, five propionic acidaemia) and many of the survivors are developmentally retarded. The outlook is worst for patients with propionic acidaemia presenting in the neonatal period but a good outcome is possible for patients with maple syrup urine disease if the diagnosis is made early.<\/jats:p>","DOI":"10.1007\/bf03047367","type":"journal-article","created":{"date-parts":[[2009,6,25]],"date-time":"2009-06-25T03:36:15Z","timestamp":1245900975000},"page":"13-17","source":"Crossref","is-referenced-by-count":27,"title":["The management and long term outcome of organic acidaemias"],"prefix":"10.1002","volume":"7","author":[{"given":"J. V.","family":"Leonard","sequence":"first","affiliation":[{"name":"The Hospital for Sick Children, Great Ormond Stree The Institute of Child Health  30 Guilford Street London WC1N 1EH"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Daish","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children, Great Ormond Stree The Institute of Child Health  30 Guilford Street London WC1N 1EH"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. R.","family":"Naughten","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children, Great Ormond Stree The Institute of Child Health  30 Guilford Street London WC1N 1EH"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Bartlett","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children, Great Ormond Stree The Institute of Child Health  30 Guilford Street London WC1N 1EH"},{"name":"Department of Clinical Biochemistry The Royal Victoria Infirmary  Newcastle upon Tyne NE1 4LP UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1984,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(78)90433-3"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.56.1.53"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.57.12.918"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF03047367","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF03047367","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T00:33:08Z","timestamp":1694824388000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF03047367"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,3]]},"references-count":3,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[1984,3]]}},"alternative-id":["10.1007\/BF03047367"],"URL":"https:\/\/doi.org\/10.1007\/bf03047367","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,3]]}}}