{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T03:18:31Z","timestamp":1791256711522,"version":"4.1.0"},"reference-count":20,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2006,6,1]],"date-time":"2006-06-01T00:00:00Z","timestamp":1149120000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":2605,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2006,6]]},"DOI":"10.1086\/503921","type":"journal-article","created":{"date-parts":[[2006,5,10]],"date-time":"2006-05-10T14:01:46Z","timestamp":1147269706000},"page":"1046-1052","source":"Crossref","is-referenced-by-count":133,"title":["Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy"],"prefix":"10.1016","volume":"78","author":[{"given":"S.","family":"Ferdinandusse","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Kostopoulos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Denis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Rusch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Overmars","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Dillmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Reith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Haas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.J.A.","family":"Wanders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Duran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Marziniak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/503921_bib2","series-title":"The molecular and metabolic bases of inherited disease","first-page":"3219","article-title":"Single peroxisomal enzyme deficiencies","author":"Wanders","year":"2001"},{"key":"10.1086\/503921_bib3","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1194\/jlr.M300512-JLR200","article-title":"Identification of the peroxisomal \u03b2-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids","volume":"45","author":"Ferdinandusse","year":"2004","journal-title":"J Lipid Res"},{"key":"10.1086\/503921_bib4","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1086\/340970","article-title":"Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein","volume":"70","author":"Ferdinandusse","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1086\/503921_bib5","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1016\/S0022-2275(20)34472-2","article-title":"Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx): activity measurements in liver and fibroblasts using a newly developed method","volume":"41","author":"Ferdinandusse","year":"2000","journal-title":"J Lipid Res"},{"key":"10.1086\/503921_bib6","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1006\/geno.1994.1630","article-title":"The structure of the human sterol carrier protein X\/sterol carrier protein 2 gene (SCP2)","volume":"24","author":"Ohba","year":"1994","journal-title":"Genomics"},{"key":"10.1086\/503921_bib7","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/j.1432-1033.1991.tb16279.x","article-title":"Identification of the cDNA clone which encodes the 58-kDa protein containing the amino acid sequence of rat liver non-specific lipid-transfer protein (sterol-carrier protein 2): homology with rat peroxisomal and mitochondrial 3-oxoacyl-CoA thiolases","volume":"201","author":"Ossendorp","year":"1991","journal-title":"Eur J Biochem"},{"key":"10.1086\/503921_bib8","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1042\/bj3240353","article-title":"Phospholipid transfer proteins revisited","volume":"324","author":"Wirtz","year":"1997","journal-title":"Biochem J"},{"key":"10.1086\/503921_bib9","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1101\/gad.12.8.1189","article-title":"Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2\/sterol carrier protein-x gene function","volume":"12","author":"Seedorf","year":"1998","journal-title":"Genes Dev"},{"key":"10.1086\/503921_bib10","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1212\/01.WNL.0000132841.81250.B7","article-title":"Tremor and deep white matter changes in \u03b1-methylacyl-CoA racemase deficiency","volume":"63","author":"Clarke","year":"2004","journal-title":"Neurology"},{"key":"10.1086\/503921_bib11","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1038\/72861","article-title":"Mutations in the gene encoding peroxisomal \u03b1-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy","volume":"24","author":"Ferdinandusse","year":"2000","journal-title":"Nat Genet"},{"key":"10.1086\/503921_bib12","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1136\/jnnp.72.3.396","article-title":"A new defect of peroxisomal function involving pristanic acid: a case report","volume":"72","author":"McLean","year":"2002","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1086\/503921_bib13","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1002\/ana.20702","article-title":"Clinical and biochemical spectrum of D-bifunctional protein deficiency","volume":"59","author":"Ferdinandusse","year":"2006","journal-title":"Ann Neurol"},{"key":"10.1086\/503921_bib14","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1046\/j.0022-3042.2002.00766.x","article-title":"Refsum\u2019s disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation","volume":"80","author":"Wierzbicki","year":"2002","journal-title":"J Neurochem"},{"key":"10.1086\/503921_bib15","doi-asserted-by":"crossref","first-page":"35455","DOI":"10.1074\/jbc.274.50.35455","article-title":"Aberrant oxidation of the cholesterol side chain in bile acid synthesis of sterol carrier protein-2\/sterol carrier protein-x knockout mice","volume":"274","author":"Kannenberg","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1086\/503921_bib16","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1172\/JCI113605","article-title":"Bile acid synthesis in man: in vivo activity of the 25-hydroxylation pathway","volume":"82","author":"Duane","year":"1988","journal-title":"J Clin Invest"},{"key":"10.1086\/503921_bib17","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1194\/jlr.M400256-JLR200","article-title":"Disrupted coordinate regulation of farnesoid X receptor target genes in a patient with cerebrotendinous xanthomatosis","volume":"46","author":"Honda","year":"2005","journal-title":"J Lipid Res"},{"key":"10.1086\/503921_bib18","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/ng0497-369","article-title":"Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata","volume":"15","author":"Braverman","year":"1997","journal-title":"Nat Genet"},{"key":"10.1086\/503921_bib19","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/ng0497-377","article-title":"Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor","volume":"15","author":"Motley","year":"1997","journal-title":"Nat Genet"},{"key":"10.1086\/503921_bib20","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1056\/NEJM198507183130322","article-title":"Rhizomelic chondrodysplasia punctata: another peroxisomal disorder","volume":"313","author":"Heymans","year":"1985","journal-title":"N Engl J Med"},{"key":"10.1086\/503921_bib21","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1016\/S0022-3476(88)80689-9","article-title":"Biochemical abnormalities in rhizomelic chondrodysplasia punctata","volume":"112","author":"Hoefler","year":"1988","journal-title":"J Pediatr"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707639251?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707639251?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,7,27]],"date-time":"2021-07-27T02:08:30Z","timestamp":1627351710000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707639251"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6]]},"references-count":20,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2006,6]]}},"alternative-id":["S0002929707639251"],"URL":"https:\/\/doi.org\/10.1086\/503921","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2006,6]]}}}