{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T19:02:05Z","timestamp":1758394925744},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1984,5,3]],"date-time":"1984-05-03T00:00:00Z","timestamp":452390400000},"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":[[1985,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The plasma bile acid profiles of three children with the inherited metabolic disorder, infantile Refsum's disease, were found to contain 3\u03b1,7\u03b1,12\u03b1\u2010trihydroxy\u20105\u03b2\u2010cholestan\u201026\u2010oic acid. This intermediate in the synthesis of cholic acid was identified by combined gas\u2010liquid chromatography\u2010mass spectrometry and accounted for approximately 25% of the total bile acids which were present at elevated concentrations in plasma. Infantile Refsum's disease appears to share several biochemical features with the cerebro\u2010hepato\u2010renal syndrome (Zellweger's disease), including abnormal bile acid metabolism.<\/jats:p>","DOI":"10.1007\/bf01805476","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T22:39:58Z","timestamp":1119911998000},"page":"13-17","source":"Crossref","is-referenced-by-count":27,"title":["Identification of 3\u03b1,7\u03b1,12\u03b1\u2010trihydroxy\u20105\u03b2\u2010cholestan\u201026\u2010oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease"],"prefix":"10.1002","volume":"8","author":[{"given":"A.","family":"Poulos","sequence":"first","affiliation":[{"name":"Department of Chemical Pathology Adelaide Childrens Hospital, and Department of Surgery, Flinders Medical Centre  Adelaide South Australia 5042"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. J.","family":"Whiting","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology Adelaide Childrens Hospital, and Department of Surgery, Flinders Medical Centre  Adelaide South Australia 5042"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1984,5,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0968-0004(83)90077-4"},{"key":"e_1_2_1_3_1","first-page":"344","article-title":"Cerebro\u2010hepato\u2010renal (Zellweger) syndrome and neonatal adrenoleukodystrophy. Similarities in phenotype and accumulation of very long\u2010chain fatty acids","volume":"151","author":"Brown F. R.","year":"1982","journal-title":"Johns Hopkins Med. 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