{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T05:13:07Z","timestamp":1790053987864,"version":"4.0.1"},"reference-count":33,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2002,4,1]],"date-time":"2002-04-01T00:00:00Z","timestamp":1017619200000},"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":4127,"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":[[2002,4]]},"DOI":"10.1086\/339766","type":"journal-article","created":{"date-parts":[[2002,9,30]],"date-time":"2002-09-30T17:03:18Z","timestamp":1033405398000},"page":"1062-1068","source":"Crossref","is-referenced-by-count":65,"title":["A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents"],"prefix":"10.1016","volume":"70","author":[{"given":"Annick","family":"Raas-Rothschild","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J.A.","family":"Wanders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra A.W.","family":"Mooijer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeannette","family":"Gootjes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans R.","family":"Waterham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alisa","family":"Gutman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuyuki","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuyuki","family":"Shimozawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi","family":"Kondo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gideon","family":"Eshel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Espeel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Roels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanley H.","family":"Korman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/339766_bib2","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/(SICI)1096-8628(20000117)90:2<110::AID-AJMG4>3.0.CO;2-#","article-title":"Infantile Refsum disease in four Amish sibs","volume":"90","author":"Bader","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1086\/339766_bib3","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1002\/ana.410440505","article-title":"Clinical approach to inherited peroxisomal disorders: a series of 27 patients","volume":"44","author":"Baumgartner","year":"1998","journal-title":"Ann Neurol"},{"key":"10.1086\/339766_bib4","doi-asserted-by":"crossref","first-page":"7516","DOI":"10.1128\/MCB.20.20.7516-7526.2000","article-title":"The peroxisome biogenesis factors Pex4p, Pex22p, Pex1p, and Pex6p act in the terminal steps of peroxisomal matrix protein import","volume":"20","author":"Collins","year":"2000","journal-title":"Mol Cell Biol"},{"key":"10.1086\/339766_bib5","first-page":"497","article-title":"Peroxisome mosaicism in the livers of peroxisomal deficiency patients","volume":"22","author":"Espeel","year":"1995","journal-title":"Hepatology"},{"key":"10.1086\/339766_bib6","first-page":"319","article-title":"Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders","volume":"67","author":"Espeel","year":"1995","journal-title":"Eur J Cell Biol"},{"issue":"Suppl 1","key":"10.1086\/339766_bib7","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/BF00711436","article-title":"Immunocytochemical localization of peroxisomal proteins in human liver and kidney","volume":"18","author":"Espeel","year":"1995","journal-title":"J Inherit Metab Dis"},{"key":"10.1086\/339766_bib8","first-page":"1210","article-title":"Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans","volume":"59","author":"Fukuda","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1086\/339766_bib9","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1111\/j.1749-6632.1996.tb18689.x","article-title":"Long survival in a case of peroxisomal biogenesis disorder with peroxisome mosaicism in the liver","volume":"804","author":"Giros","year":"1996","journal-title":"Ann NY Acad Sci"},{"issue":"Suppl 1","key":"10.1086\/339766_bib10","first-page":"90","article-title":"Molecular basis of Zellweger syndrome and other peroxisome biogenesis disorders: mutation analysis of human PEX6 gene","volume":"24","author":"Gootjes","year":"2001","journal-title":"J Inherit Metab Dis"},{"key":"10.1086\/339766_bib11","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1016\/S0168-9525(00)02056-4","article-title":"Peroxisome biogenesis disorders: genetics and cell biology","volume":"16","author":"Gould","year":"2000","journal-title":"Trends Genet"},{"key":"10.1086\/339766_bib12","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/0005-2760(94)90064-7","article-title":"Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein","volume":"1215","author":"IJlst","year":"1994","journal-title":"Biochim Biophys Acta"},{"key":"10.1086\/339766_bib13","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1203\/00006450-200010000-00020","article-title":"Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1","volume":"48","author":"Imamura","year":"2000","journal-title":"Pediatr Res"},{"key":"10.1086\/339766_bib14","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1086\/301881","article-title":"Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders","volume":"62","author":"Imamura","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1086\/339766_bib15","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1023\/A:1005624523611","article-title":"Characteristic urine organic acid profile in peroxisomal biogenesis disorders","volume":"23","author":"Korman","year":"2000","journal-title":"J Inherit Metab Dis"},{"key":"10.1086\/339766_bib16","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1007\/s100380170078","article-title":"The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6","volume":"46","author":"Matsumoto","year":"2001","journal-title":"J Hum Genet"},{"key":"10.1086\/339766_bib17","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/1531-8249(199901)45:1<100::AID-ART16>3.0.CO;2-U","article-title":"Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls","volume":"45","author":"Moser","year":"1999","journal-title":"Ann Neurol"},{"key":"10.1086\/339766_bib18","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0022-3476(95)70250-4","article-title":"Phenotypes of patients with peroxisomal disorders subdivided into sixteen complementation groups","volume":"127","author":"Moser","year":"1995","journal-title":"J Pediatr"},{"key":"10.1086\/339766_bib19","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1006\/mgme.1999.2926","article-title":"Genotype-phenotype correlations in disorders of peroxisome biogenesis","volume":"68","author":"Moser","year":"1999","journal-title":"Mol Genet Metab"},{"key":"10.1086\/339766_bib20","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1146\/annurev.genom.2.1.271","article-title":"Usher syndrome: from genetics to pathogenesis","volume":"2","author":"Petit","year":"2001","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"10.1086\/339766_bib21","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1177\/088307389901400705","article-title":"Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicism","volume":"14","author":"Pineda","year":"1999","journal-title":"J Child Neurol"},{"issue":"Suppl 1","key":"10.1086\/339766_bib22","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/BF00711437","article-title":"Liver and chorion cytochemistry","volume":"18","author":"Roels","year":"1995","journal-title":"J Inherit Metab Dis"},{"key":"10.1086\/339766_bib23","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/S0022-2275(20)38538-2","article-title":"Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors","volume":"29","author":"Schrakamp","year":"1988","journal-title":"J Lipid Res"},{"key":"10.1086\/339766_bib24","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1023\/A:1010310816743","article-title":"Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders","volume":"24","author":"Suzuki","year":"2001","journal-title":"J Inherit Metab Dis"},{"key":"10.1086\/339766_bib25","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1023\/A:1022592014988","article-title":"Peroxisomal disorders: clinical, biochemical, and molecular aspects","volume":"24","author":"Wanders","year":"1999","journal-title":"Neurochem Res"},{"issue":"Suppl 1","key":"10.1086\/339766_bib26","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1007\/BF00711433","article-title":"Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients","volume":"18","author":"Wanders","year":"1995","journal-title":"J Inherit Metab Dis"},{"issue":"Suppl 1","key":"10.1086\/339766_bib27","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1007\/BF00711434","article-title":"Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts","volume":"18","author":"Wanders","year":"1995","journal-title":"J Inherit Metab Dis"},{"issue":"Suppl 1","key":"10.1086\/339766_bib28","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1007\/BF00711432","article-title":"Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells","volume":"18","author":"Wanders","year":"1995","journal-title":"J Inherit Metab Dis"},{"key":"10.1086\/339766_bib29","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/0005-2760(93)90239-6","article-title":"Studies on phytanic acid alpha-oxidation in rat liver and cultured human skin fibroblasts","volume":"1167","author":"Wanders","year":"1993","journal-title":"Biochim Biophys Acta"},{"issue":"Suppl 2","key":"10.1086\/339766_bib30","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1007\/BF03335405","article-title":"Prenatal diagnosis of Zellweger syndrome by direct visualization of peroxisomes in chorionic villus fibroblasts by immunofluorescence microscopy","volume":"12","author":"Wanders","year":"1989","journal-title":"J Inherit Metab Dis"},{"key":"10.1086\/339766_bib31","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1001\/archopht.1984.01040031067026","article-title":"Ophthalmic manifestations of infantile phytanic acid storage diseases","volume":"102","author":"Weleber","year":"1984","journal-title":"Arch Ophthalmol"},{"key":"10.1086\/339766_bib32","doi-asserted-by":"crossref","first-page":"2914","DOI":"10.1002\/j.1460-2075.1996.tb00654.x","article-title":"The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor","volume":"15","author":"Yahraus","year":"1996","journal-title":"EMBO J"},{"key":"10.1086\/339766_bib33","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1007\/BF00219334","article-title":"Complementation study of peroxisome-deficient staining and characterization of fused cells","volume":"88","author":"Yajima","year":"1992","journal-title":"Hum Genet"},{"key":"10.1086\/339766_bib34","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1002\/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T","article-title":"Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders","volume":"13","author":"Zhang","year":"1999","journal-title":"Hum Mutat"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707603188?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707603188?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T04:12:43Z","timestamp":1733803963000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707603188"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,4]]},"references-count":33,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,4]]}},"alternative-id":["S0002929707603188"],"URL":"https:\/\/doi.org\/10.1086\/339766","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2002,4]]}}}