{"id":"https://openalex.org/W1990604147","doi":"https://doi.org/10.1111/j.1365-2141.1988.00441.x","title":"Congenital macrothrombocytopenia, leucocyte inclusions, deafness and proteinuria: functional and electron microscopic observations on platelets and megakaryocytes","display_name":"Congenital macrothrombocytopenia, leucocyte inclusions, deafness and proteinuria: functional and electron microscopic observations on platelets and megakaryocytes","publication_year":1988,"publication_date":"1988-12-01","ids":{"openalex":"https://openalex.org/W1990604147","doi":"https://doi.org/10.1111/j.1365-2141.1988.00441.x","mag":"1990604147","pmid":"https://pubmed.ncbi.nlm.nih.gov/2851314"},"language":"en","primary_location":{"id":"doi:10.1111/j.1365-2141.1988.00441.x","doi":"https://doi.org/10.1111/j.1365-2141.1988.00441.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1365-2141.1988.00441.x","pdf_url":null,"source":{"id":"https://openalex.org/S153015021","display_name":"British Journal of Haematology","issn_l":"0007-1048","issn":["0007-1048","1365-2141"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"British Journal of Haematology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","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/A5036975555","display_name":"M. J. Heynen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE"],"is_corresponding":true,"raw_author_name":"M. J. Heynen","raw_affiliation_strings":["Department of Haematology, University of Leuven, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Haematology, University of Leuven, Belgium","institution_ids":["https://openalex.org/I99464096"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083643588","display_name":"Dani\u00ebl Blockmans","orcid":"https://orcid.org/0000-0001-9783-1780","observed_orcids":["https://orcid.org/0000-0001-9783-1780"]},"institutions":[{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"D. Blockmans","raw_affiliation_strings":["Centre for Thrombosis and Vascular Research, University of Leuven, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Thrombosis and Vascular Research, University of Leuven, Belgium","institution_ids":["https://openalex.org/I99464096"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110092990","display_name":"Robrecht L. Verwilghen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"R. L. Verwilghen","raw_affiliation_strings":["Department of Haematology, University of Leuven, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Haematology, University of Leuven, Belgium","institution_ids":["https://openalex.org/I99464096"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108081471","display_name":"J. Vermylen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"J. Vermylen","raw_affiliation_strings":["Centre for Thrombosis and Vascular Research, University of Leuven, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Thrombosis and Vascular Research, University of Leuven, Belgium","institution_ids":["https://openalex.org/I99464096"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5036975555"],"corresponding_institution_ids":["https://openalex.org/I99464096"],"apc_list":{"value":5190,"currency":"USD","value_usd":5190},"apc_paid":null,"fwci":1.6542,"has_fulltext":false,"cited_by_count":55,"citation_normalized_percentile":{"value":0.83187413,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":94},"biblio":{"volume":"70","issue":"4","first_page":"441","last_page":"448"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10746","display_name":"Platelet Disorders and Treatments","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10746","display_name":"Platelet Disorders and Treatments","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10993","display_name":"Complement system in diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10881","display_name":"Blood Coagulation and Thrombosis Mechanisms","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/macrothrombocytopenia","display_name":"macrothrombocytopenia","score":0.8859999775886536},{"id":"https://openalex.org/keywords/alport-syndrome","display_name":"Alport syndrome","score":0.7889999747276306},{"id":"https://openalex.org/keywords/deafness","display_name":"deafness","score":0.8830000162124634},{"id":"https://openalex.org/keywords/proteinuria","display_name":"proteinuria","score":0.9959999918937683},{"id":"https://openalex.org/keywords/platelet-ultrastructure","display_name":"platelet ultrastructure","score":0.8840000033378601},{"id":"https://openalex.org/keywords/megakaryocytes","display_name":"megakaryocytes","score":0.7559999823570251},{"id":"https://openalex.org/keywords/demarcation-membrane-system","display_name":"demarcation membrane system","score":0.9710000157356262},{"id":"https://openalex.org/keywords/platelet-aggregation","display_name":"platelet aggregation","score":0.7039999961853027},{"id":"https://openalex.org/keywords/cytoskeleton","display_name":"cytoskeleton","score":0.6850000023841858},{"id":"https://openalex.org/keywords/platelet-formation","display_name":"platelet formation","score":0.4480000138282776},{"id":"https://openalex.org/keywords/bleeding-time","display_name":"bleeding time","score":0.4490000009536743}],"concepts":[{"id":"https://openalex.org/C89560881","wikidata":"https://www.wikidata.org/wiki/Q101026","display_name":"Platelet","level":2,"score":0.912373423576355},{"id":"https://openalex.org/C87555872","wikidata":"https://www.wikidata.org/wiki/Q3141316","display_name":"Ultrastructure","level":2,"score":0.64431232213974},{"id":"https://openalex.org/C168240541","wikidata":"https://www.wikidata.org/wiki/Q45948","display_name":"Organelle","level":2,"score":0.5776484608650208},{"id":"https://openalex.org/C93877712","wikidata":"https://www.wikidata.org/wiki/Q132560","display_name":"Electron microscope","level":2,"score":0.5373477339744568},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.5245174169540405},{"id":"https://openalex.org/C2776958478","wikidata":"https://www.wikidata.org/wiki/Q14914622","display_name":"Thrombopoiesis","level":5,"score":0.4733025133609772},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.4660167992115021},{"id":"https://openalex.org/C142669718","wikidata":"https://www.wikidata.org/wiki/Q154626","display_name":"Cytoskeleton","level":3,"score":0.46196502447128296},{"id":"https://openalex.org/C203750385","wikidata":"https://www.wikidata.org/wiki/Q1308970","display_name":"Inclusion bodies","level":4,"score":0.45238780975341797},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.3336251378059387},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.3259882926940918},{"id":"https://openalex.org/C2779705218","wikidata":"https://www.wikidata.org/wiki/Q821701","display_name":"Megakaryocyte","level":4,"score":0.32376545667648315},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3082956075668335},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.30685028433799744},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.24344319105148315},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.10028284788131714},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.07647648453712463},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0},{"id":"https://openalex.org/C109159458","wikidata":"https://www.wikidata.org/wiki/Q919283","display_name":"Haematopoiesis","level":3,"score":0.0},{"id":"https://openalex.org/C120665830","wikidata":"https://www.wikidata.org/wiki/Q14620","display_name":"Optics","level":1,"score":0.0},{"id":"https://openalex.org/C547475151","wikidata":"https://www.wikidata.org/wiki/Q25419","display_name":"Escherichia coli","level":3,"score":0.0},{"id":"https://openalex.org/C28328180","wikidata":"https://www.wikidata.org/wiki/Q48196","display_name":"Stem cell","level":2,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001792","descriptor_name":"Blood Platelets","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":true},{"descriptor_ui":"D001853","descriptor_name":"Bone Marrow","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D002479","descriptor_name":"Inclusion Bodies","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008533","descriptor_name":"Megakaryocytes","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":true},{"descriptor_ui":"D008854","descriptor_name":"Microscopy, Electron","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009394","descriptor_name":"Nephritis, Hereditary","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D009394","descriptor_name":"Nephritis, Hereditary","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D009504","descriptor_name":"Neutrophils","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":true},{"descriptor_ui":"D010974","descriptor_name":"Platelet Aggregation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1111/j.1365-2141.1988.00441.x","doi":"https://doi.org/10.1111/j.1365-2141.1988.00441.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1365-2141.1988.00441.x","pdf_url":null,"source":{"id":"https://openalex.org/S153015021","display_name":"British Journal of Haematology","issn_l":"0007-1048","issn":["0007-1048","1365-2141"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"British Journal of Haematology","raw_type":"journal-article"},{"id":"doi:10.1111/j.1365-2141.1988.tb02514.x","doi":"https://doi.org/10.1111/j.1365-2141.1988.tb02514.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1365-2141.1988.tb02514.x","pdf_url":null,"source":{"id":"https://openalex.org/S153015021","display_name":"British Journal of Haematology","issn_l":"0007-1048","issn":["0007-1048","1365-2141"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"British Journal of Haematology","raw_type":"journal-article"},{"id":"pmid:2851314","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2851314","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":"British journal of haematology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":26,"referenced_works":["https://openalex.org/W78956529","https://openalex.org/W126813486","https://openalex.org/W191818889","https://openalex.org/W397537768","https://openalex.org/W1494003148","https://openalex.org/W1565725475","https://openalex.org/W1966682207","https://openalex.org/W1968910163","https://openalex.org/W1972379192","https://openalex.org/W1974482136","https://openalex.org/W2003014314","https://openalex.org/W2020199222","https://openalex.org/W2028543769","https://openalex.org/W2029315544","https://openalex.org/W2036990943","https://openalex.org/W2063340893","https://openalex.org/W2067056664","https://openalex.org/W2078890555","https://openalex.org/W2088371504","https://openalex.org/W2163147532","https://openalex.org/W2296293854","https://openalex.org/W2312989138","https://openalex.org/W2315187155","https://openalex.org/W2410091668","https://openalex.org/W4249366419","https://openalex.org/W7118102529"],"related_works":["https://openalex.org/W2888777835","https://openalex.org/W2531494358","https://openalex.org/W1494003148","https://openalex.org/W2397502270","https://openalex.org/W2165723768","https://openalex.org/W4311111779","https://openalex.org/W2087823798","https://openalex.org/W2315187155","https://openalex.org/W2168383897","https://openalex.org/W2003014314"],"abstract_inverted_index":{"We":[0],"report":[1],"a":[2,5,23,29],"patient":[3,43],"with":[4,22,82,97],"variant":[6],"of":[7,26,41,92,109,120,126,131,135,145,149,155,161,167],"Alport's":[8],"syndrome:":[9],"macrothrombocytopenia,":[10],"leucocyte":[11],"inclusions,":[12],"deafness":[13],"and":[14,28,44,164],"proteinuria.":[15],"Ultrastructural":[16],"studies":[17,66],"revealed":[18],"giant":[19],"spheroid":[20],"platelets":[21,51,127,146,168],"high":[24],"density":[25],"organelles":[27],"disorganized":[30],"microtubular":[31],"system.":[32],"In":[33,47],"addition,":[34],"Fechtner":[35],"inclusions":[36],"were":[37],"observed":[38],"in":[39,67,80,95,158],"neutrophils":[40],"the":[42,55,83,89,110,118,132,136,150,159,162,165],"her":[45],"mother.":[46],"platelet":[48,57],"rich":[49],"plasma":[50],"aggregated":[52],"normally":[53],"for":[54],"low":[56],"number,":[58],"although":[59],"no":[60],"shape":[61],"change":[62],"was":[63],"visible.":[64],"Platelet":[65],"whole":[68],"blood":[69],"using":[70],"impedance":[71],"aggregometry":[72],"gave":[73],"supernormal":[74],"aggregation":[75],"curves;":[76],"this":[77,93],"is":[78,169],"not":[79],"agreement":[81],"abnormally":[84],"long":[85],"bleeding":[86],"time,":[87],"showing":[88],"limited":[90],"usefulness":[91],"technique":[94],"patients":[96],"such":[98],"large":[99,122],"platelets.":[100,123],"The":[101,124,153],"megakaryocytes":[102],"(MK)":[103],"showed":[104],"two":[105],"different":[106],"distribution":[107],"patterns":[108],"demarcation":[111],"membrane":[112],"system":[113],"(DMS),":[114],"which":[115,138],"may":[116],"explain":[117],"production":[119],"few":[121],"formation":[125],"occurred":[128],"by":[129,143],"fragmentation":[130],"granular":[133],"zone":[134],"MKs,":[137],"seemed":[139],"to":[140],"be":[141],"followed":[142],"expulsion":[144,166],"through":[147],"openings":[148],"peripheral":[151],"zone.":[152],"involvement":[154],"cytoskeletal":[156],"structures":[157],"organization":[160],"DMS":[163],"discussed.":[170]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2014,"cited_by_count":1}],"updated_date":"2026-11-03T10:50:19.383937","created_date":"2016-06-24T00:00:00"}