{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T19:47:14Z","timestamp":1792180034679,"version":"4.4.0"},"reference-count":98,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,6,24]],"date-time":"2013-06-24T00:00:00Z","timestamp":1372032000000},"content-version":"vor","delay-in-days":23,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dev Disabil Res Revs"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:p>The peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders in which peroxisome assembly is impaired, leading to multiple peroxisome enzyme deficiencies, complex developmental sequelae and progressive disabilities. Mammalian peroxisome assembly involves the protein products of 16 <jats:italic>PEX<\/jats:italic> genes; defects in 14 of these have been shown to cause PBD. Three broad phenotypic groups are described on a spectrum of severity: Zellweger syndrome is the most severe, neonatal adrenoleukodystrophy is intermediate and infantile Refsum disease is less severe. Another group is Rhizomelic chondrodysplasia punctata spectrum. Recently, atypical phenotypes have been described, indicating that the full spectrum of these disorders remains to be identified. For most patients, there is a correlation between clinical severity and effect of the mutation on PEX protein function. Diagnosis relies on biochemical measurements of peroxisome functions and <jats:italic>PEX<\/jats:italic> gene sequencing. There are no targeted therapies, although management protocols have been suggested and research endeavors continue. In this review we will discuss peroxisome biology and PBD, and research contributions to pathophysiology and treatment. \u00a9 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2013;17:187\u2013196.<\/jats:p>","DOI":"10.1002\/ddrr.1113","type":"journal-article","created":{"date-parts":[[2013,6,24]],"date-time":"2013-06-24T14:14:21Z","timestamp":1372083261000},"page":"187-196","source":"Crossref","is-referenced-by-count":149,"title":["Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives"],"prefix":"10.1002","volume":"17","author":[{"given":"Nancy E.","family":"Braverman","sequence":"first","affiliation":[{"name":"Department of Human Genetics McGill University  Quebec Canada"},{"name":"Department of Pediatrics Montreal Children's Hospital Montreal  Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Daniela","family":"D'Agostino","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Montreal Children's Hospital Montreal  Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gillian E.","family":"MacLean","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University  Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,6,24]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/S0022-2275(20)33340-X","article-title":"3\u2010Hydroxy\u20103\u2010methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria","volume":"40","author":"Ashmarina LI","year":"1999","journal-title":"J Lipid Res"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/1073858409336297"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2006.08.018"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000205594.34647.d0"},{"key":"e_1_2_4_6_1","first-page":"1163","article-title":"MR of Zellweger syndrome","volume":"18","author":"Barkovich AJ","year":"1997","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000106943.40848.03"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0962-8924(98)01314-2"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10124"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2012.05.008"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.12.005"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0028539"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg236"},{"issue":"10","key":"e_1_2_4_14_1","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1242\/jcs.112.10.1579","article-title":"Metabolic control of peroxisome abundance","volume":"112","author":"Chang CC","year":"1999","journal-title":"J Cell Sci"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02536379"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.20628"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.22979"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.074302"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21388"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2004.07.014"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.10699"},{"key":"e_1_2_4_22_1","doi-asserted-by":"crossref","first-page":"1890","DOI":"10.1016\/S0022-2275(20)31983-0","article-title":"Subcellular localization and physiological role of alpha\u2010methylacyl\u2010CoA racemase","volume":"41","author":"Ferdinandusse S","year":"2000","journal-title":"J Lipid Res"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.182.4107.62"},{"key":"e_1_2_4_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tox.2007.09.030"},{"key":"e_1_2_4_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2011.09.005"},{"key":"e_1_2_4_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1684"},{"key":"e_1_2_4_27_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198507183130322"},{"key":"e_1_2_4_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/306069a0"},{"key":"e_1_2_4_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0854.2009.00970.x"},{"key":"e_1_2_4_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0854.2009.00966.x"},{"key":"e_1_2_4_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21623"},{"key":"e_1_2_4_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.3780005"},{"key":"e_1_2_4_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2008.07.023"},{"key":"e_1_2_4_34_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI111717"},{"key":"e_1_2_4_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2070"},{"key":"e_1_2_4_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00280-007-0426-7"},{"key":"e_1_2_4_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.21532"},{"key":"e_1_2_4_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.02.003"},{"key":"e_1_2_4_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.21097"},{"key":"e_1_2_4_40_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1275729"},{"key":"e_1_2_4_41_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.301853"},{"key":"e_1_2_4_42_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1996.tb18695.x"},{"key":"e_1_2_4_43_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.23.8226-8240.2002"},{"key":"e_1_2_4_44_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.12.4358-4365.2002"},{"key":"e_1_2_4_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.02.002"},{"key":"e_1_2_4_46_1","doi-asserted-by":"publisher","DOI":"10.1021\/jm049353p"},{"key":"e_1_2_4_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2008.04.064"},{"key":"e_1_2_4_48_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201010022"},{"key":"e_1_2_4_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410280617"},{"key":"e_1_2_4_50_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-200208000-00025"},{"key":"e_1_2_4_51_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100288"},{"key":"e_1_2_4_52_1","doi-asserted-by":"publisher","DOI":"10.1152\/physiol.00025.2010"},{"key":"e_1_2_4_53_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb2027"},{"key":"e_1_2_4_54_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-185"},{"key":"e_1_2_4_55_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198405033101802"},{"key":"e_1_2_4_56_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.24.10822-10832.2005"},{"key":"e_1_2_4_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2008.06.004"},{"key":"e_1_2_4_58_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.09-4020"},{"key":"e_1_2_4_59_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2011.05.005"},{"key":"e_1_2_4_60_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2011.03.006"},{"key":"e_1_2_4_61_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181f07061"},{"key":"e_1_2_4_62_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST0360099"},{"key":"e_1_2_4_63_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200611012"},{"key":"e_1_2_4_64_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20664"},{"key":"e_1_2_4_65_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1009174107"},{"key":"e_1_2_4_66_1","doi-asserted-by":"publisher","DOI":"10.1086\/339766"},{"key":"e_1_2_4_67_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22035"},{"key":"e_1_2_4_68_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4419-9072-3_14"},{"key":"e_1_2_4_69_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamem.2010.07.020"},{"key":"e_1_2_4_70_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1474-9726.2007.00291.x"},{"key":"e_1_2_4_71_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840150206"},{"key":"e_1_2_4_72_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-8"},{"key":"e_1_2_4_73_1","doi-asserted-by":"publisher","DOI":"10.2147\/IJHTS.S10547"},{"key":"e_1_2_4_74_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.TP.0000077420.81365.53"},{"key":"e_1_2_4_75_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.08.008"},{"key":"e_1_2_4_76_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2006.09.010"},{"key":"e_1_2_4_77_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0969-8"},{"key":"e_1_2_4_78_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M106326200"},{"key":"e_1_2_4_79_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp110"},{"key":"e_1_2_4_80_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742-4658.2005.04939.x"},{"key":"e_1_2_4_81_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.150.1.F13"},{"key":"e_1_2_4_82_1","doi-asserted-by":"publisher","DOI":"10.1086\/346093"},{"key":"e_1_2_4_83_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0593-9"},{"key":"e_1_2_4_84_1","doi-asserted-by":"publisher","DOI":"10.1086\/321265"},{"key":"e_1_2_4_85_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2006.08.010"},{"key":"e_1_2_4_86_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.74.082803.133329"},{"key":"e_1_2_4_87_1","unstructured":"WaterhamHR EbberinkMS KosterJ et al.2011.A novel human peroxisome biogenesis disorder affecting peroxisome division. Presented at the 12th International Congress of Human Genetics\/61st Annual Meeting of The American Society of Human Genetics. Montreal Canada."},{"key":"e_1_2_4_88_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa064436"},{"key":"e_1_2_4_89_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200003)47:3<286::AID-ANA3>3.0.CO;2-B"},{"key":"e_1_2_4_90_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20009"},{"key":"e_1_2_4_91_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijms.2011.09.005"},{"key":"e_1_2_4_92_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M700169-MCP200"},{"key":"e_1_2_4_93_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10264"},{"key":"e_1_2_4_94_1","doi-asserted-by":"publisher","DOI":"10.1186\/1476-511X-10-182"},{"key":"e_1_2_4_95_1","doi-asserted-by":"publisher","DOI":"10.1186\/1476-511X-10-227"},{"key":"e_1_2_4_96_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20932"},{"key":"e_1_2_4_97_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0157-y"},{"key":"e_1_2_4_98_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007611-198803000-00017"},{"key":"e_1_2_4_99_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0914960107"}],"container-title":["Developmental Disabilities Research Reviews"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fddrr.1113","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ddrr.1113","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T06:53:13Z","timestamp":1694501593000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ddrr.1113"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6]]},"references-count":98,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["10.1002\/ddrr.1113"],"URL":"https:\/\/doi.org\/10.1002\/ddrr.1113","archive":["Portico"],"relation":{},"ISSN":["1940-5510","1940-5529"],"issn-type":[{"value":"1940-5510","type":"print"},{"value":"1940-5529","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6]]}}}