{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T05:07:53Z","timestamp":1792040873380,"version":"4.4.0"},"reference-count":191,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,3,18]],"date-time":"2025-03-18T00:00:00Z","timestamp":1742256000000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Glycerophospholipids (GPLs) are the main lipid components of cellular membranes. They are implicated in membrane structure, vesicle trafficking, neurotransmission, and cell signalling. GPL molecules are amphiphilic, organized around the three carbons of glycerol. Positions\n                    <jats:italic>sn\u20101<\/jats:italic>\n                    and\n                    <jats:italic>sn\u20102<\/jats:italic>\n                    are each esterified to a fatty acid (FA). At position\n                    <jats:italic>sn\u20103<\/jats:italic>\n                    , a phosphate group is linked, which in turn can bind a polar head group, the most prevalent classes being phosphatidic acid (PA, phosphate alone as head group), phosphatidylcholine (PC), phosphatidylethanolamine (PE), phosphatidylserine (PS), phosphatidylinositol (PI), and cardiolipin (CL). Pathways of GPL biosynthesis span several cell compartments (endoplasmic reticulum (ER), Golgi mitochondria). Particularly important are mitochondria\u2010associated membranes (MAMs), where the ER and mitochondrial outer membrane are in proximity. After synthesis, GPLs continuously undergo remodelling by FA hydrolysis and re\u2010esterification. Esterification with different FAs alters membrane properties. Many steps in GPL synthesis and remodelling can be mediated by more than one enzyme, suggesting complexity that requires further exploration. The 38 known GPL\u2010related inborn errors are clinically diverse. 23 (61%) have neurologic features, sometimes progressive and severe, particularly developmental delay\/encephalopathy in 16 (42%) and spastic paraplegia in 12 (32%). Photoreceptor\/neuroretinal disease occurs in 14 (37%). Three present skeletal dysplasias (8%). Most GPL inborn errors have been diagnosed by broad molecular testing. Lipidomics holds promise for diagnostic testing and for the discovery of functionally relevant metabolite profiles for monitoring natural history and treatment response.\n                  <\/jats:p>","DOI":"10.1002\/jimd.70019","type":"journal-article","created":{"date-parts":[[2025,3,18]],"date-time":"2025-03-18T19:05:26Z","timestamp":1742324726000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":55,"title":["Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors"],"prefix":"10.1002","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5104-2935","authenticated-orcid":false,"given":"Foudil","family":"Lamari","sequence":"first","affiliation":[{"name":"Metabolic Biochemistry, Neurometabolic and Neurodegenerative Unit \u2013 DMU BioGeMH H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re, AP\u2010HP. Sorbonne Universit\u00e9  Paris France"},{"name":"Brain Institute \u2010 Institut du Cerveau \u2010 ICM, Inserm U1127, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8896-1468","authenticated-orcid":false,"given":"Francis","family":"Rossignol","sequence":"additional","affiliation":[{"name":"Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health  Bethesda Maryland USA"},{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics CHU Sainte Justine and Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0804-3676","authenticated-orcid":false,"given":"Grant A.","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics CHU Sainte Justine and Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,3,18]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2330"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2010.03.011"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.plipres.2011.02.004"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0167-7306(02)36003-4"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/tra.12230"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00028.2012"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R117.000582"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12766"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00040.2013"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/1873\u20103468.12887"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.15252\/embr.202154532"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms242115693"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcp.2022.115296"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2017.02.002"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2020.01.009"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamem.2019.183145"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2940001"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41589\u2010020\u20100529\u20106"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1039\/d0sm00404a"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25158325"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0029665120000129"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2024.01.007"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11010\u2010017\u20103203\u2010x"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2020.02.115"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M402930200"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M606100200"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamem.2020.183382"},{"key":"e_1_2_13_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn3820"},{"key":"e_1_2_13_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamem.2008.10.011"},{"key":"e_1_2_13_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010024\u201054137\u2010w"},{"key":"e_1_2_13_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2016.02.033"},{"key":"e_1_2_13_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2016.09.030"},{"key":"e_1_2_13_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2010.05.002"},{"key":"e_1_2_13_35_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.114454"},{"key":"e_1_2_13_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.abb.2021.108966"},{"key":"e_1_2_13_37_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.113.21.3685"},{"key":"e_1_2_13_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.copbio.2015.09.006"},{"key":"e_1_2_13_39_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00219a001"},{"key":"e_1_2_13_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/tra.12233"},{"key":"e_1_2_13_41_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0042\u201024.2024"},{"key":"e_1_2_13_42_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200604016"},{"key":"e_1_2_13_43_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41580\u2010023\u201000604\u2010z"},{"key":"e_1_2_13_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2971"},{"key":"e_1_2_13_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbior.2016.09.004"},{"key":"e_1_2_13_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbior.2019.100688"},{"key":"e_1_2_13_47_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.70008"},{"key":"e_1_2_13_48_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600\u20100854.2000.010301.x"},{"key":"e_1_2_13_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006\u20103495(03)74796\u20101"},{"key":"e_1_2_13_50_1","doi-asserted-by":"publisher","DOI":"10.1080\/21592799.2015.1078431"},{"key":"e_1_2_13_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.plipres.2023.101267"},{"key":"e_1_2_13_52_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12035\u2010019\u201001775\u20107"},{"key":"e_1_2_13_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2023.02.014"},{"key":"e_1_2_13_54_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0005\u20102760(98)00123\u20104"},{"key":"e_1_2_13_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2023.04.003"},{"key":"e_1_2_13_56_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010024\u201007374\u20104"},{"key":"e_1_2_13_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbc.2021.100604"},{"key":"e_1_2_13_58_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz376"},{"key":"e_1_2_13_59_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2017.138"},{"key":"e_1_2_13_60_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13241"},{"key":"e_1_2_13_61_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3313"},{"key":"e_1_2_13_62_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3311"},{"key":"e_1_2_13_63_1","doi-asserted-by":"publisher","DOI":"10.1155\/2017\/4829180"},{"key":"e_1_2_13_64_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.ircmb.2015.10.001"},{"key":"e_1_2_13_65_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgm.3501"},{"key":"e_1_2_13_66_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2012.08.016"},{"key":"e_1_2_13_67_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.202003131"},{"key":"e_1_2_13_68_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnut.2022.1094273"},{"key":"e_1_2_13_69_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.P081620"},{"key":"e_1_2_13_70_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)42702-6"},{"key":"e_1_2_13_71_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.plipres.2005.05.001"},{"key":"e_1_2_13_72_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2022.839248"},{"key":"e_1_2_13_73_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1252809"},{"key":"e_1_2_13_74_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2003.07.003"},{"key":"e_1_2_13_75_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0162331"},{"key":"e_1_2_13_76_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamem.2013.10.003"},{"key":"e_1_2_13_77_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200407123"},{"key":"e_1_2_13_78_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2017.08.006"},{"key":"e_1_2_13_79_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2013.07.008"},{"key":"e_1_2_13_80_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2013.03.018"},{"key":"e_1_2_13_81_1","doi-asserted-by":"publisher","DOI":"10.1038\/s42003\u2010023\u201004573\u2010z"},{"key":"e_1_2_13_82_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2023.113214"},{"key":"e_1_2_13_83_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.abl6992"},{"key":"e_1_2_13_84_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010physiol\u2010020518\u2010114444"},{"key":"e_1_2_13_85_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jlr.2022.100271"},{"key":"e_1_2_13_86_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.R046094"},{"key":"e_1_2_13_87_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST20210579"},{"key":"e_1_2_13_88_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.02.004"},{"key":"e_1_2_13_89_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12565"},{"key":"e_1_2_13_90_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac074"},{"key":"e_1_2_13_91_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.010"},{"key":"e_1_2_13_92_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13395\u2010022\u201000306\u20108"},{"key":"e_1_2_13_93_1","volume-title":"Gene Reviews","author":"Chan S. H. S.","year":"2023"},{"key":"e_1_2_13_94_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.11.018"},{"key":"e_1_2_13_95_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.11.022"},{"key":"e_1_2_13_96_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1408523111"},{"key":"e_1_2_13_97_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.23"},{"key":"e_1_2_13_98_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000658"},{"key":"e_1_2_13_99_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz291"},{"key":"e_1_2_13_100_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa229"},{"key":"e_1_2_13_101_1","doi-asserted-by":"publisher","DOI":"10.1139\/o07\u2010006"},{"key":"e_1_2_13_102_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww318"},{"key":"e_1_2_13_103_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa442"},{"key":"e_1_2_13_104_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsb.2020.107607"},{"key":"e_1_2_13_105_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells11101619"},{"key":"e_1_2_13_106_1","doi-asserted-by":"publisher","DOI":"10.3390\/molecules14125367"},{"key":"e_1_2_13_107_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jlr.2023.10044"},{"key":"e_1_2_13_108_1","doi-asserted-by":"publisher","DOI":"10.1111\/imr.13264"},{"key":"e_1_2_13_109_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2829"},{"key":"e_1_2_13_110_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38604"},{"key":"e_1_2_13_111_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61327"},{"key":"e_1_2_13_112_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62695"},{"key":"e_1_2_13_113_1","doi-asserted-by":"publisher","DOI":"10.29245\/2572\u20109411\/2017\/1.1080"},{"key":"e_1_2_13_114_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23693"},{"key":"e_1_2_13_115_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100595\u2010x"},{"key":"e_1_2_13_116_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14549"},{"key":"e_1_2_13_117_1","doi-asserted-by":"publisher","DOI":"10.26508\/lsa.201900353"},{"key":"e_1_2_13_118_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109\u2010014\u20101237\u2010z"},{"key":"e_1_2_13_119_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022\u20103476(75)80217\u20104"},{"key":"e_1_2_13_120_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.005"},{"key":"e_1_2_13_121_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010014\u20100119\u20103"},{"key":"e_1_2_13_122_1","doi-asserted-by":"publisher","DOI":"10.3233\/TRD\u2010180020"},{"key":"e_1_2_13_123_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010017\u20100090\u2010y"},{"key":"e_1_2_13_124_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awae268"},{"key":"e_1_2_13_125_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M404959200"},{"key":"e_1_2_13_126_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.86944"},{"key":"e_1_2_13_127_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010014\u20109759\u20107"},{"key":"e_1_2_13_128_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36059"},{"key":"e_1_2_13_129_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25110"},{"key":"e_1_2_13_130_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2325"},{"key":"e_1_2_13_131_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102017\u2010104622"},{"key":"e_1_2_13_132_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddac040"},{"key":"e_1_2_13_133_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038\u2010018\u20100519\u20107"},{"key":"e_1_2_13_134_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13008"},{"key":"e_1_2_13_135_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010020\u201001479\u20105"},{"key":"e_1_2_13_136_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/102.4.727"},{"key":"e_1_2_13_137_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.52.7.1472"},{"key":"e_1_2_13_138_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2010.05.009"},{"key":"e_1_2_13_139_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1826"},{"key":"e_1_2_13_140_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12035\u2010018\u20101118\u20105"},{"key":"e_1_2_13_141_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.103801"},{"key":"e_1_2_13_142_1","doi-asserted-by":"publisher","DOI":"10.1086\/508572"},{"key":"e_1_2_13_143_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0012897"},{"key":"e_1_2_13_144_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2023"},{"key":"e_1_2_13_145_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28807"},{"key":"e_1_2_13_146_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.018"},{"key":"e_1_2_13_147_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt326"},{"key":"e_1_2_13_148_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102014\u2010102856"},{"key":"e_1_2_13_149_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2009"},{"key":"e_1_2_13_150_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2006.04.004"},{"key":"e_1_2_13_151_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.11.001"},{"key":"e_1_2_13_152_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010014\u20107418\u20104"},{"key":"e_1_2_13_153_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.08.015"},{"key":"e_1_2_13_154_1","doi-asserted-by":"publisher","DOI":"10.1021\/acs.biochem.8b00810"},{"key":"e_1_2_13_155_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2016.02.007"},{"key":"e_1_2_13_156_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102013\u2010101644"},{"key":"e_1_2_13_157_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010019\u201009466\u2010y"},{"key":"e_1_2_13_158_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep07132"},{"key":"e_1_2_13_159_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jlr.2023.100457"},{"key":"e_1_2_13_160_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1413706111"},{"key":"e_1_2_13_161_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41418\u2010024\u201001261\u20101"},{"key":"e_1_2_13_162_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010016\u20108066\u20107"},{"key":"e_1_2_13_163_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2017.77"},{"key":"e_1_2_13_164_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2016.02.001"},{"key":"e_1_2_13_165_1","doi-asserted-by":"publisher","DOI":"10.1111\/joim.13193"},{"key":"e_1_2_13_166_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2017.07.007"},{"key":"e_1_2_13_167_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010014\u20109747\u2010y"},{"key":"e_1_2_13_168_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12425"},{"key":"e_1_2_13_169_1","doi-asserted-by":"publisher","DOI":"10.3390\/biomedicines11041092"},{"key":"e_1_2_13_170_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23031697"},{"key":"e_1_2_13_171_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2022"},{"key":"e_1_2_13_172_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz382"},{"key":"e_1_2_13_173_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.916672"},{"key":"e_1_2_13_174_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.atherosclerosis.2020.10.897"},{"key":"e_1_2_13_175_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022\u20103476(84)80956\u20107"},{"key":"e_1_2_13_176_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng880"},{"key":"e_1_2_13_177_1","doi-asserted-by":"publisher","DOI":"10.3390\/biom12060840"},{"key":"e_1_2_13_178_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010012\u20109461\u20106"},{"key":"e_1_2_13_179_1","volume-title":"GeneReviews\u00ae","author":"Narayanan D. L.","year":"2023"},{"key":"e_1_2_13_180_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2017010031"},{"key":"e_1_2_13_181_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm10071435"},{"key":"e_1_2_13_182_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.xhgg.2022.10009"},{"key":"e_1_2_13_183_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.002"},{"key":"e_1_2_13_184_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14421"},{"key":"e_1_2_13_185_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200068"},{"key":"e_1_2_13_186_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.07.019"},{"key":"e_1_2_13_187_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2019.06.092"},{"key":"e_1_2_13_188_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09583"},{"key":"e_1_2_13_189_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010022\u201002444\u2010x"},{"key":"e_1_2_13_190_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI148005"},{"key":"e_1_2_13_191_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468\u20103083.2012.04472.x"},{"key":"e_1_2_13_192_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.170"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.70019","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T05:41:07Z","timestamp":1762839667000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.70019"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3]]},"references-count":191,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["10.1002\/jimd.70019"],"URL":"https:\/\/doi.org\/10.1002\/jimd.70019","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3]]},"assertion":[{"value":"2024-06-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70019"}}