{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T14:17:53Z","timestamp":1761488273178},"reference-count":1,"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>The French experience in the long term follow\u2010up of 105 cases of organic aciduria (45 maple syrup urine disease, 12 isovaleric acidaemia, 19 propionic acidaemia, 24 methylmalonic aciduria and some rare allied disorders) is reported. Main conclusions drawn from this survey are the poor overall prognosis and the slow improvement in the outcome of such disorders over the last 15 years. In MSUD, while early diagnosis and early management remain a basic requirement, intellectual development did not improve as much as expected. In propionic and methylmalonic acidaemia modern treatment does not prevent a fatal outcome in the classical neonatal forms. It should be also emphasized that in the rare cases where a coenzyme deficiency has been demonstrated, vitamin therapy is very often ineffective<jats:italic>in vivo.<\/jats:italic><\/jats:p>","DOI":"10.1007\/bf03047366","type":"journal-article","created":{"date-parts":[[2009,6,25]],"date-time":"2009-06-25T03:36:15Z","timestamp":1245900975000},"page":"10-12","source":"Crossref","is-referenced-by-count":25,"title":["Long term outcome of organic acidurias: Survey of 105 French cases (1967\u20131983)"],"prefix":"10.1002","volume":"7","author":[{"given":"R.","family":"Rousson","sequence":"first","affiliation":[{"name":"Unit\u00e9 de G\u00e9n\u00e9tique et d\u2019Etude des maladies m\u00e9taboliques de l\u2019Enfant\u2010H\u00f4pital Debrousse  29 rue Soeur Bouvier Lyon Cedex 05 69322 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Guibaud","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de G\u00e9n\u00e9tique et d\u2019Etude des maladies m\u00e9taboliques de l\u2019Enfant\u2010H\u00f4pital Debrousse  29 rue Soeur Bouvier Lyon Cedex 05 69322 France"}],"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":"10.1007\/978-94-009-7316-9_1"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF03047366","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF03047366","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T00:32:04Z","timestamp":1694824324000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF03047366"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,3]]},"references-count":1,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[1984,3]]}},"alternative-id":["10.1007\/BF03047366"],"URL":"https:\/\/doi.org\/10.1007\/bf03047366","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]]}}}