{"id":"https://openalex.org/W2432279616","doi":null,"title":"Aberration in de novo ether lipid biosynthesis in peroxisomal disorders.","display_name":"Aberration in de novo ether lipid biosynthesis in peroxisomal disorders.","publication_year":1988,"publication_date":"1988-01-01","ids":{"openalex":"https://openalex.org/W2432279616","mag":"2432279616","pmid":"https://pubmed.ncbi.nlm.nih.gov/3071794"},"language":"en","primary_location":{"id":"pmid:3071794","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3071794","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Progress in clinical and biological research","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5068234271","display_name":"Henk van den BOSCH","orcid":"https://orcid.org/0000-0001-9537-5080","observed_orcids":["https://orcid.org/0000-0001-9537-5080"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H van den Bosch","raw_affiliation_strings":["Biochemistry Laboratory, Utrecht, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry Laboratory, Utrecht, The Netherlands","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031265369","display_name":"Casper G. Schalkwijk","orcid":"https://orcid.org/0000-0003-0190-2690","observed_orcids":["https://orcid.org/0000-0003-0190-2690"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C G Schalkwijk","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073264343","display_name":"Gemke Schrakamp","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G Schrakamp","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040743356","display_name":"Ronald J. A. Wanders","orcid":"https://orcid.org/0000-0001-7818-1452","observed_orcids":["https://orcid.org/0000-0001-7818-1452"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R J Wanders","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111455865","display_name":"Ruud B. H. Schutgens","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R B Schutgens","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112184038","display_name":"A. W. Schram","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A W Schram","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5111933731","display_name":"Joseph M. Tager","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J M Tager","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.5687,"has_fulltext":false,"cited_by_count":11,"citation_normalized_percentile":{"value":0.67911877,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"282","issue":null,"first_page":"139","last_page":"50"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9951000213623047,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9951000213623047,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11844","display_name":"Lipid metabolism and biosynthesis","score":0.002899999963119626,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/zellweger-syndrome","display_name":"Zellweger syndrome","score":0.890999972820282},{"id":"https://openalex.org/keywords/peroxisomal-disorders","display_name":"peroxisomal disorders","score":0.9259999990463257},{"id":"https://openalex.org/keywords/ether-lipid-biosynthesis","display_name":"ether lipid biosynthesis","score":0.9139999747276306},{"id":"https://openalex.org/keywords/plasmalogens","display_name":"plasmalogens","score":0.7860000133514404},{"id":"https://openalex.org/keywords/infantile-refsum-disease","display_name":"infantile Refsum disease","score":0.8820000290870667},{"id":"https://openalex.org/keywords/neonatal-adrenoleukodystrophy","display_name":"neonatal adrenoleukodystrophy","score":0.9800000190734863},{"id":"https://openalex.org/keywords/rhizomelic-chondrodysplasia-punctata","display_name":"rhizomelic chondrodysplasia punctata","score":0.9980000257492065},{"id":"https://openalex.org/keywords/peroxisome-biogenesis","display_name":"peroxisome biogenesis","score":0.8809999823570251},{"id":"https://openalex.org/keywords/peroxisomal-enzyme-deficiency","display_name":"peroxisomal enzyme deficiency","score":0.722000002861023},{"id":"https://openalex.org/keywords/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.7429999709129333},{"id":"https://openalex.org/keywords/diagnostic-assay","display_name":"diagnostic assay","score":0.5839999914169312}],"concepts":[{"id":"https://openalex.org/C2777485865","wikidata":"https://www.wikidata.org/wiki/Q189167","display_name":"Zellweger syndrome","level":4,"score":0.9457393288612366},{"id":"https://openalex.org/C2781317408","wikidata":"https://www.wikidata.org/wiki/Q3281322","display_name":"Peroxisomal disorder","level":4,"score":0.8760013580322266},{"id":"https://openalex.org/C127078168","wikidata":"https://www.wikidata.org/wiki/Q138639","display_name":"Peroxisome","level":3,"score":0.8722136616706848},{"id":"https://openalex.org/C2777565452","wikidata":"https://www.wikidata.org/wiki/Q420599","display_name":"Plasmalogen","level":4,"score":0.7248325943946838},{"id":"https://openalex.org/C2778676606","wikidata":"https://www.wikidata.org/wiki/Q1076060","display_name":"Chondrodysplasia punctata","level":2,"score":0.652447521686554},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5312131643295288},{"id":"https://openalex.org/C553450214","wikidata":"https://www.wikidata.org/wiki/Q851162","display_name":"Biosynthesis","level":3,"score":0.5060405135154724},{"id":"https://openalex.org/C2777150068","wikidata":"https://www.wikidata.org/wiki/Q366964","display_name":"Adrenoleukodystrophy","level":4,"score":0.4890945553779602},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.46098077297210693},{"id":"https://openalex.org/C4733338","wikidata":"https://www.wikidata.org/wiki/Q2792936","display_name":"Lipid metabolism","level":2,"score":0.4478439688682556},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.21260029077529907},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.16463851928710938},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.14844024181365967},{"id":"https://openalex.org/C2778918659","wikidata":"https://www.wikidata.org/wiki/Q186915","display_name":"Phospholipid","level":3,"score":0.11527323722839355},{"id":"https://openalex.org/C41625074","wikidata":"https://www.wikidata.org/wiki/Q176088","display_name":"Membrane","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D005995","descriptor_name":"Glyceryl Ethers","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008830","descriptor_name":"Microbodies","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D010955","descriptor_name":"Plasmalogens","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D015211","descriptor_name":"Zellweger Syndrome","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true}],"locations_count":4,"locations":[{"id":"pmid:3071794","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3071794","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Progress in clinical and biological research","raw_type":"Journal Article"},{"id":"pmh:amcpub:oai:pure.amc.nl:publications/0f5afd01-2106-45cb-b091-9cc845aa1d60","doi":null,"is_oa":false,"landing_page_url":"https://pure.amc.nl/en/publications/aberration-in-de-novo-ether-lipid-biosynthesis-in-peroxisomal-disorders(0f5afd01-2106-45cb-b091-9cc845aa1d60).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Progress in clinical and biological research, 282, 139 - 150. John Wiley and Sons Inc.","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.amsterdamumc.nl:openaire_cris_publications/7914d480-7413-4b3b-9960-867a0cd0fb36","doi":null,"is_oa":false,"landing_page_url":"https://pure.amsterdamumc.nl/en/publications/7914d480-7413-4b3b-9960-867a0cd0fb36","pdf_url":null,"source":{"id":"https://openalex.org/S7407055222","display_name":"Pure Amsterdam UMC","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"van den Bosch, H, Schalkwijk, C G, Schrakamp, G, Wanders, R J, Schutgens, R B, Schram, A W & Tager, J M 1988, 'Aberration in de novo ether lipid biosynthesis in peroxisomal disorders', Progress in clinical and biological research, vol. 282, pp. 139-150.","raw_type":"info:eu-repo/semantics/article"},{"id":"mag:2432279616","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3071794","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.6240000128746033,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2102196797","https://openalex.org/W1999009665","https://openalex.org/W2050279295","https://openalex.org/W4247853376","https://openalex.org/W883707","https://openalex.org/W1989282269","https://openalex.org/W2077561069","https://openalex.org/W44532381","https://openalex.org/W2242728650","https://openalex.org/W369729"],"abstract_inverted_index":{"The":[0,63,75,96],"Zellweger":[1,25,115],"syndrome":[2,116],"is":[3],"a":[4,19,123,144],"rare":[5],"inborn":[6],"error":[7],"of":[8,14,31,45,126,150,176],"metabolism":[9],"characterized":[10,146],"by":[11,37,101,147],"the":[12,41,46,103,148,174],"absence":[13,149],"morphologically":[15],"distinguishable":[16],"peroxisomes.":[17,179],"As":[18],"consequence":[20],"tissues":[21],"and":[22,86,134],"cells":[23,89,104],"from":[24],"patients":[26],"contain":[27],"severely":[28],"reduced":[29],"levels":[30],"ether":[32,72,81],"phospholipids.":[33],"These":[34],"are":[35,69],"replaced":[36],"diacylphospholipids":[38],"while":[39],"keeping":[40],"polar":[42],"headgroup":[43],"composition":[44],"cellular":[47],"phospholipids":[48],"constant.":[49],"Both":[50],"peroxisomal":[51,76,127,155],"enzymes":[52],"involved":[53,172],"in":[54,78,84,93,114,119,140,173],"glycero-ether":[55],"lipid":[56,73,82],"bond":[57],"formation":[58],"appear":[59],"to":[60],"be":[61,91,99,171],"deficient.":[62],"experiments":[64],"clearly":[65],"establish":[66],"that":[67,165],"peroxisomes":[68],"indispensible":[70],"for":[71,111],"biosynthesis.":[74],"deficiency":[77],"de":[79],"novo":[80],"biosynthesis":[83,113],"fibroblasts":[85],"amniotic":[87],"fluid":[88],"can":[90,98],"applied":[92],"diagnostic":[94],"assays.":[95],"mutation":[97],"by-passed":[100],"feeding":[102],"with":[105,122],"alkylglycerol.":[106],"Similar":[107],"characteristics":[108],"as":[109,130,137,139],"found":[110],"plasmalogen":[112],"were":[117],"assessed":[118],"other":[120],"diseases":[121],"general":[124],"impairment":[125],"functions":[128],"such":[129],"infantile":[131],"Refsum":[132],"disease":[133,145],"neonatal":[135],"adrenoleukodystrophy":[136],"well":[138],"rhizomelic":[141],"chondrodysplasia":[142],"punctata,":[143],"some,":[151],"but":[152],"not":[153],"all,":[154],"functions.":[156],"Complementation":[157],"analysis":[158],"after":[159],"somatic":[160],"cell":[161],"fusion":[162],"has":[163],"revealed":[164],"at":[166],"least":[167],"three":[168],"genes":[169],"must":[170],"biogenesis":[175],"fully":[177],"functional":[178]},"counts_by_year":[{"year":2019,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
