{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T09:53:02Z","timestamp":1726221182496},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,12,5]],"date-time":"2005-12-05T00:00:00Z","timestamp":1133740800000},"content-version":"vor","delay-in-days":6882,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1987,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A fatal case of medium\u2010chain acyl\u2010coenzyme A dehydrogenase deficiency is described in a patient who presented with hypoglycaemia and a gross non\u2010ketotic dicarboxylic aciduria. Cultured skin fibroblasts released <jats:sup>14<\/jats:sup>CO<jats:sub>2<\/jats:sub> from [1\u2013<jats:sup>14<\/jats:sup>C] octanoic acid at half the normal rate. Prenatal diagnosis was undertaken in a subsequent pregnancy in which cultured amniotic fluid cells revealed a marked reduction in octanoate oxidation indicative of an affected fetus. The pregnancy was terminated and the diagnosis was confirmed by enzyme analysis of skin fibroblasts taken from the fetus. The high residual octanoate oxidation by affected fibroblasts together with the absence of any characteristic abnormality of amniotic fluid organic acids are a potential limitation to the reliability of this type of prenatal diagnosis.<\/jats:p>","DOI":"10.1002\/pd.1970070210","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T00:40:24Z","timestamp":1172968824000},"page":"135-141","source":"Crossref","is-referenced-by-count":20,"title":["Prenatal diagnosis of medium\u2010chain acyl\u2010coenzyme A dehydrogenase deficiency"],"prefix":"10.1002","volume":"7","author":[{"given":"M. J.","family":"Bennett","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Allison","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. W.","family":"Lowther","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. G. F.","family":"Gray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. I.","family":"Johnston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. S.","family":"Fitzsimmons","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. J.","family":"Manning","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. J.","family":"Pollitt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,12,5]]},"reference":[{"key":"e_1_2_1_2_1","unstructured":"Allison F. Barnes I. C. S. Bennett M. J.(1986). The oxidation of octanoic acid by cultured amniotic fluid cells: the effect of cell type and passage number Proceedings of the 24th Symposium of the Society for the Study of Inborn Errors of Metabolism Amersfoort Abstract 57."},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01805802"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-94-009-5778-7"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198507000-00007"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80514-X"},{"key":"e_1_2_1_7_1","volume-title":"Diagnosis of Organic Acidemias by Gas Chromatography\u2010Mass Spectrometry","author":"Goodman S. 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