{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:15:04Z","timestamp":1763036104227},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,12,1]],"date-time":"2005-12-01T00:00:00Z","timestamp":1133395200000},"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":[[2005,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Sj\u00f6gren\u2013Larsson syndrome (SLS) is a metabolic disorder characterized by ichthyosis, mental retardation and spastic diplegia or tetraplegia. The biochemical defect has been identified as a deficiency of fatty aldehyde dehydrogenase (FALDH), which is part of an enzyme complex that converts fatty alcohols into fatty acids. Making use of the finding that FALDH is also involved in the degradation of phytol, we set up an enzymatic assay for the prenatal diagnosis of SLS in cultured chorionic villus fibroblasts (CVF) based on a deficiency in the conversion of phytol to phytenic acid. FALDH activity was assessed by incubating fibroblast homogenates with phytol in the presence of NAD<jats:sup>+<\/jats:sup>, followed by hexane extraction of the samples and quantification of phytenic acid production by gas chromatography\u2013mass spectrometry (GC\u2010MS). FALDH activity could be detected in cultured CVF cells derived from control fetuses and the activity was found to be markedly deficient in cultured CVF cells derived from an affected SLS fetus. The new assay described in this paper has advantages over previous assays and we conclude that it may well contribute to the prenatal detection of SLS.<\/jats:p>","DOI":"10.1007\/s10545-005-0115-9","type":"journal-article","created":{"date-parts":[[2006,1,25]],"date-time":"2006-01-25T09:35:29Z","timestamp":1138181729000},"page":"965-969","source":"Crossref","is-referenced-by-count":15,"title":["A novel assay for the prenatal diagnosis of Sj\u00f6gren\u2013Larsson syndrome"],"prefix":"10.1002","volume":"28","author":[{"given":"D. M.","family":"van den Brink","sequence":"first","affiliation":[{"name":"Academic Medical Centre, Laboratory for Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital University of Amsterdam Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. M.","family":"van Miert","sequence":"additional","affiliation":[{"name":"Academic Medical Centre, Laboratory for Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital University of Amsterdam Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. J. A.","family":"Wanders","sequence":"additional","affiliation":[{"name":"Academic Medical Centre, Laboratory for Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital University of Amsterdam Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,12]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115478"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113379"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80070-8"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970140711"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/302681"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.01.019"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2004.037879"},{"key":"e_1_2_1_9_1","first-page":"3303","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Wanders RJA","year":"2001"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.7.1426"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(00)00474-3"},{"key":"e_1_2_1_12_1","first-page":"649","article-title":"MR imaging and proton MR spectroscopic studies in Sjogren\u2010Larsson syndrome: characterization of the leukoencephalopathy","volume":"25","author":"Willemsen MA","year":"2004","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1432-1327.1998.2510549.x"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0115-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T02:16:20Z","timestamp":1694744180000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-0115-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,12]]},"references-count":12,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2005,12]]}},"alternative-id":["10.1007\/s10545-005-0115-9"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-0115-9","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,12]]}}}