{"id":"https://openalex.org/W4283397153","doi":"https://doi.org/10.1097/01.hs9.0000849432.35354.e5","title":"P1644: NOVEL VARIANTS IN GALE CAUSED SYNDROMIC MACROTHROMBOCYTOPENIA DISRUPTING THROMBOPOIESIS AND GLYCOSYLATION","display_name":"P1644: NOVEL VARIANTS IN GALE CAUSED SYNDROMIC MACROTHROMBOCYTOPENIA DISRUPTING THROMBOPOIESIS AND GLYCOSYLATION","publication_year":2022,"publication_date":"2022-06-01","ids":{"openalex":"https://openalex.org/W4283397153","doi":"https://doi.org/10.1097/01.hs9.0000849432.35354.e5"},"language":"en","primary_location":{"id":"doi:10.1097/01.hs9.0000849432.35354.e5","doi":"https://doi.org/10.1097/01.hs9.0000849432.35354.e5","is_oa":true,"landing_page_url":"https://doi.org/10.1097/01.hs9.0000849432.35354.e5","pdf_url":null,"source":{"id":"https://openalex.org/S4210211592","display_name":"HemaSphere","issn_l":"2572-9241","issn":["2572-9241"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-2","norway-1","oarl","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"HemaSphere","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","is_traditional":false,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1097/01.hs9.0000849432.35354.e5","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5081921887","display_name":"Ana Mar\u00edn\u2010Quilez","orcid":"https://orcid.org/0000-0002-2005-1919","observed_orcids":["https://orcid.org/0000-0002-2005-1919"]},"institutions":[{"id":"https://openalex.org/I184999862","display_name":"Universidad de Salamanca","ror":"https://ror.org/02f40zc51","country_code":"ES","type":"education","lineage":["https://openalex.org/I184999862"]},{"id":"https://openalex.org/I4210134045","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca","ror":"https://ror.org/03em6xj44","country_code":"ES","type":"facility","lineage":["https://openalex.org/I184999862","https://openalex.org/I4210099034","https://openalex.org/I4210134045"]},{"id":"https://openalex.org/I4210138819","display_name":"Centro de Investigaci\u00f3n del C\u00e1ncer","ror":"https://ror.org/04rxrdv16","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I184999862","https://openalex.org/I4210138819"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"A. Marin Quilez","raw_affiliation_strings":["IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain","institution_ids":["https://openalex.org/I184999862","https://openalex.org/I4210134045","https://openalex.org/I4210138819"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024242278","display_name":"Christian Andrea Di Buduo","orcid":"https://orcid.org/0000-0002-6472-2008","observed_orcids":["https://orcid.org/0000-0002-6472-2008"]},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"C. A. Di Buduo","raw_affiliation_strings":["Department of Molecular Medicine, University of Pavia, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine, University of Pavia, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015479809","display_name":"Lorena D\u00edaz\u2010Ajenjo","orcid":"https://orcid.org/0000-0003-0716-385X","observed_orcids":["https://orcid.org/0000-0003-0716-385X"]},"institutions":[{"id":"https://openalex.org/I184999862","display_name":"Universidad de Salamanca","ror":"https://ror.org/02f40zc51","country_code":"ES","type":"education","lineage":["https://openalex.org/I184999862"]},{"id":"https://openalex.org/I4210134045","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca","ror":"https://ror.org/03em6xj44","country_code":"ES","type":"facility","lineage":["https://openalex.org/I184999862","https://openalex.org/I4210099034","https://openalex.org/I4210134045"]},{"id":"https://openalex.org/I4210138819","display_name":"Centro de Investigaci\u00f3n del C\u00e1ncer","ror":"https://ror.org/04rxrdv16","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I184999862","https://openalex.org/I4210138819"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"L. D\u00edaz-Ajenjo","raw_affiliation_strings":["IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain","institution_ids":["https://openalex.org/I184999862","https://openalex.org/I4210134045","https://openalex.org/I4210138819"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085315286","display_name":"Paolo M. Soprano","orcid":"https://orcid.org/0000-0001-6637-3852","observed_orcids":["https://orcid.org/0000-0001-6637-3852"]},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"P. M. Soprano","raw_affiliation_strings":["Department of Molecular Medicine, University of Pavia, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine, University of Pavia, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037641759","display_name":"Elena Vuelta","orcid":"https://orcid.org/0000-0002-3289-0605","observed_orcids":["https://orcid.org/0000-0002-3289-0605"]},"institutions":[{"id":"https://openalex.org/I184999862","display_name":"Universidad de Salamanca","ror":"https://ror.org/02f40zc51","country_code":"ES","type":"education","lineage":["https://openalex.org/I184999862"]},{"id":"https://openalex.org/I4210134045","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca","ror":"https://ror.org/03em6xj44","country_code":"ES","type":"facility","lineage":["https://openalex.org/I184999862","https://openalex.org/I4210099034","https://openalex.org/I4210134045"]},{"id":"https://openalex.org/I4210138819","display_name":"Centro de Investigaci\u00f3n del C\u00e1ncer","ror":"https://ror.org/04rxrdv16","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I184999862","https://openalex.org/I4210138819"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"E. Vuelta","raw_affiliation_strings":["IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain","institution_ids":["https://openalex.org/I184999862","https://openalex.org/I4210134045","https://openalex.org/I4210138819"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009440772","display_name":"Inmaculada Serramito-G\u00f3mez","orcid":"https://orcid.org/0000-0002-5150-4597","observed_orcids":["https://orcid.org/0000-0002-5150-4597"]},"institutions":[{"id":"https://openalex.org/I184999862","display_name":"Universidad de Salamanca","ror":"https://ror.org/02f40zc51","country_code":"ES","type":"education","lineage":["https://openalex.org/I184999862"]},{"id":"https://openalex.org/I4210134045","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca","ror":"https://ror.org/03em6xj44","country_code":"ES","type":"facility","lineage":["https://openalex.org/I184999862","https://openalex.org/I4210099034","https://openalex.org/I4210134045"]},{"id":"https://openalex.org/I4210138819","display_name":"Centro de Investigaci\u00f3n del C\u00e1ncer","ror":"https://ror.org/04rxrdv16","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I184999862","https://openalex.org/I4210138819"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"I. Serramito-G\u00f3mez","raw_affiliation_strings":["IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain","institution_ids":["https://openalex.org/I184999862","https://openalex.org/I4210134045","https://openalex.org/I4210138819"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060880185","display_name":"Sandra Santos\u2010M\u00ednguez","orcid":"https://orcid.org/0000-0003-0729-207X","observed_orcids":["https://orcid.org/0000-0003-0729-207X"]},"institutions":[{"id":"https://openalex.org/I184999862","display_name":"Universidad de Salamanca","ror":"https://ror.org/02f40zc51","country_code":"ES","type":"education","lineage":["https://openalex.org/I184999862"]},{"id":"https://openalex.org/I4210134045","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca","ror":"https://ror.org/03em6xj44","country_code":"ES","type":"facility","lineage":["https://openalex.org/I184999862","https://openalex.org/I4210099034","https://openalex.org/I4210134045"]},{"id":"https://openalex.org/I4210138819","display_name":"Centro de Investigaci\u00f3n del C\u00e1ncer","ror":"https://ror.org/04rxrdv16","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I184999862","https://openalex.org/I4210138819"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"S. Santos-M\u00ednguez","raw_affiliation_strings":["IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain","institution_ids":["https://openalex.org/I184999862","https://openalex.org/I4210134045","https://openalex.org/I4210138819"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048683667","display_name":"Cristina Miguel\u2010Garc\u00eda","orcid":"https://orcid.org/0000-0001-7359-7993","observed_orcids":["https://orcid.org/0000-0001-7359-7993"]},"institutions":[{"id":"https://openalex.org/I184999862","display_name":"Universidad de Salamanca","ror":"https://ror.org/02f40zc51","country_code":"ES","type":"education","lineage":["https://openalex.org/I184999862"]},{"id":"https://openalex.org/I4210134045","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca","ror":"https://ror.org/03em6xj44","country_code":"ES","type":"facility","lineage":["https://openalex.org/I184999862","https://openalex.org/I4210099034","https://openalex.org/I4210134045"]},{"id":"https://openalex.org/I4210138819","display_name":"Centro de Investigaci\u00f3n del C\u00e1ncer","ror":"https://ror.org/04rxrdv16","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I184999862","https://openalex.org/I4210138819"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"C. Miguel-Garc\u00eda","raw_affiliation_strings":["IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain","institution_ids":["https://openalex.org/I184999862","https://openalex.org/I4210134045","https://openalex.org/I4210138819"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014679277","display_name":"S. Tocino-Antonio","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I184999862","display_name":"Universidad de Salamanca","ror":"https://ror.org/02f40zc51","country_code":"ES","type":"education","lineage":["https://openalex.org/I184999862"]},{"id":"https://openalex.org/I4210134045","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca","ror":"https://ror.org/03em6xj44","country_code":"ES","type":"facility","lineage":["https://openalex.org/I184999862","https://openalex.org/I4210099034","https://openalex.org/I4210134045"]},{"id":"https://openalex.org/I4210138819","display_name":"Centro de Investigaci\u00f3n del C\u00e1ncer","ror":"https://ror.org/04rxrdv16","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I184999862","https://openalex.org/I4210138819"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"S. Tocino-Antonio","raw_affiliation_strings":["IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain","institution_ids":["https://openalex.org/I184999862","https://openalex.org/I4210134045","https://openalex.org/I4210138819"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015970395","display_name":"Ver\u00f3nica Palma\u2010Barqueros","orcid":"https://orcid.org/0000-0002-5699-0053","observed_orcids":["https://orcid.org/0000-0002-5699-0053"]},"institutions":[{"id":"https://openalex.org/I4210115362","display_name":"Centro Regional de Hemodonaci\u00f3n","ror":"https://ror.org/02a57s352","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210115362"]},{"id":"https://openalex.org/I4210146619","display_name":"Instituto Murciano de Investigaci\u00f3n Biosanitaria","ror":"https://ror.org/053j10c72","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210146619"]},{"id":"https://openalex.org/I80180929","display_name":"Universidad de Murcia","ror":"https://ror.org/03p3aeb86","country_code":"ES","type":"education","lineage":["https://openalex.org/I80180929"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"V. Palma-Barqueros","raw_affiliation_strings":["Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, Murcia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, Murcia","institution_ids":["https://openalex.org/I4210115362","https://openalex.org/I4210146619","https://openalex.org/I80180929"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011328729","display_name":"Ana Zamora\u2010C\u00e1novas","orcid":"https://orcid.org/0000-0002-5562-203X","observed_orcids":["https://orcid.org/0000-0002-5562-203X"]},"institutions":[{"id":"https://openalex.org/I4210115362","display_name":"Centro Regional de Hemodonaci\u00f3n","ror":"https://ror.org/02a57s352","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210115362"]},{"id":"https://openalex.org/I4210146619","display_name":"Instituto Murciano de Investigaci\u00f3n Biosanitaria","ror":"https://ror.org/053j10c72","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210146619"]},{"id":"https://openalex.org/I80180929","display_name":"Universidad de Murcia","ror":"https://ror.org/03p3aeb86","country_code":"ES","type":"education","lineage":["https://openalex.org/I80180929"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"A. Zamora-Canovas","raw_affiliation_strings":["Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, Murcia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, Murcia","institution_ids":["https://openalex.org/I4210115362","https://openalex.org/I4210146619","https://openalex.org/I80180929"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020609349","display_name":"Pedro Ruiz\u2010Sala","orcid":"https://orcid.org/0000-0003-1785-4988","observed_orcids":["https://orcid.org/0000-0003-1785-4988"]},"institutions":[{"id":"https://openalex.org/I63634437","display_name":"Universidad Aut\u00f3noma de Madrid","ror":"https://ror.org/01cby8j38","country_code":"ES","type":"education","lineage":["https://openalex.org/I63634437"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"P. Ruiz-Sala","raw_affiliation_strings":["Centro de Diagn\u00f3stico de Enfermedades Moleculares, Universidad Aut\u00f3noma de Madrid, CIBERER, IdIPAZ, Madrid"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Diagn\u00f3stico de Enfermedades Moleculares, Universidad Aut\u00f3noma de Madrid, CIBERER, IdIPAZ, Madrid","institution_ids":["https://openalex.org/I63634437"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071331756","display_name":"Mar\u00eda Jes\u00fas Pe\u00f1arrubia","orcid":"https://orcid.org/0000-0002-1400-0955","observed_orcids":["https://orcid.org/0000-0002-1400-0955"]},"institutions":[{"id":"https://openalex.org/I4210157802","display_name":"Hospital Cl\u00ednico Universitario de Valladolid","ror":"https://ror.org/04fffmj41","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210157802"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"M. J. Pe\u00f1arrubia","raw_affiliation_strings":["Department of Hematology, Hospital Cl\u00ednico Universitario de Valladolid, Valladolid"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology, Hospital Cl\u00ednico Universitario de Valladolid, Valladolid","institution_ids":["https://openalex.org/I4210157802"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080587560","display_name":"Emilia Pardal","orcid":"https://orcid.org/0000-0001-7712-7876","observed_orcids":["https://orcid.org/0000-0001-7712-7876"]},"institutions":[{"id":"https://openalex.org/I4210161885","display_name":"Hospital Virgen del Puerto","ror":"https://ror.org/05peke140","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210161885"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"E. Pardal","raw_affiliation_strings":["Department of Hematology, Hospital Virgen del Puerto, Plasencia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology, Hospital Virgen del Puerto, Plasencia","institution_ids":["https://openalex.org/I4210161885"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035896968","display_name":"Jes\u00fas Mar\u00eda Hern\u00e1ndez\u2010Rivas","orcid":"https://orcid.org/0000-0002-9661-9371","observed_orcids":["https://orcid.org/0000-0002-9661-9371"]},"institutions":[{"id":"https://openalex.org/I184999862","display_name":"Universidad de Salamanca","ror":"https://ror.org/02f40zc51","country_code":"ES","type":"education","lineage":["https://openalex.org/I184999862"]},{"id":"https://openalex.org/I4210099034","display_name":"Complejo Hospitalario de Salamanca","ror":"https://ror.org/0131vfw26","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I184999862","https://openalex.org/I4210099034"]},{"id":"https://openalex.org/I4210134045","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca","ror":"https://ror.org/03em6xj44","country_code":"ES","type":"facility","lineage":["https://openalex.org/I184999862","https://openalex.org/I4210099034","https://openalex.org/I4210134045"]},{"id":"https://openalex.org/I4210138819","display_name":"Centro de Investigaci\u00f3n del C\u00e1ncer","ror":"https://ror.org/04rxrdv16","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I184999862","https://openalex.org/I4210138819"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"J. M. Hern\u00e1ndez-Rivas","raw_affiliation_strings":["Department of Hematology, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca (IBSAL), Universidad de Salamanca (USAL), Salamanca","IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca (IBSAL), Universidad de Salamanca (USAL), Salamanca","institution_ids":["https://openalex.org/I184999862","https://openalex.org/I4210099034","https://openalex.org/I4210134045"]},{"raw_affiliation_string":"IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain","institution_ids":["https://openalex.org/I184999862","https://openalex.org/I4210134045","https://openalex.org/I4210138819"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035391612","display_name":"Jos\u00e9 Ram\u00f3n Gonz\u00e1lez\u2010Porras","orcid":"https://orcid.org/0000-0003-3266-7996","observed_orcids":["https://orcid.org/0000-0003-3266-7996"]},"institutions":[{"id":"https://openalex.org/I184999862","display_name":"Universidad de Salamanca","ror":"https://ror.org/02f40zc51","country_code":"ES","type":"education","lineage":["https://openalex.org/I184999862"]},{"id":"https://openalex.org/I4210099034","display_name":"Complejo Hospitalario de Salamanca","ror":"https://ror.org/0131vfw26","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I184999862","https://openalex.org/I4210099034"]},{"id":"https://openalex.org/I4210134045","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca","ror":"https://ror.org/03em6xj44","country_code":"ES","type":"facility","lineage":["https://openalex.org/I184999862","https://openalex.org/I4210099034","https://openalex.org/I4210134045"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"J. R. Gonz\u00e1lez-Porras","raw_affiliation_strings":["Department of Hematology, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca (IBSAL), Universidad de Salamanca (USAL), Salamanca"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca (IBSAL), Universidad de Salamanca (USAL), Salamanca","institution_ids":["https://openalex.org/I184999862","https://openalex.org/I4210099034","https://openalex.org/I4210134045"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074746066","display_name":"Roc\u00ed\u00ado Benito","orcid":"https://orcid.org/0000-0001-9781-4198","observed_orcids":["https://orcid.org/0000-0001-9781-4198"]},"institutions":[{"id":"https://openalex.org/I184999862","display_name":"Universidad de Salamanca","ror":"https://ror.org/02f40zc51","country_code":"ES","type":"education","lineage":["https://openalex.org/I184999862"]},{"id":"https://openalex.org/I4210134045","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca","ror":"https://ror.org/03em6xj44","country_code":"ES","type":"facility","lineage":["https://openalex.org/I184999862","https://openalex.org/I4210099034","https://openalex.org/I4210134045"]},{"id":"https://openalex.org/I4210138819","display_name":"Centro de Investigaci\u00f3n del C\u00e1ncer","ror":"https://ror.org/04rxrdv16","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I184999862","https://openalex.org/I4210138819"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"R. Benito","raw_affiliation_strings":["IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain","institution_ids":["https://openalex.org/I184999862","https://openalex.org/I4210134045","https://openalex.org/I4210138819"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047936186","display_name":"Jos\u00e9 Rivera","orcid":"https://orcid.org/0000-0003-4225-6840","observed_orcids":["https://orcid.org/0000-0003-4225-6840"]},"institutions":[{"id":"https://openalex.org/I4210103868","display_name":"Sociedad Espa\u00f1ola de Trombosis y Hemostasia","ror":"https://ror.org/01bvxq084","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210103868"]},{"id":"https://openalex.org/I4210115362","display_name":"Centro Regional de Hemodonaci\u00f3n","ror":"https://ror.org/02a57s352","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210115362"]},{"id":"https://openalex.org/I4210146619","display_name":"Instituto Murciano de Investigaci\u00f3n Biosanitaria","ror":"https://ror.org/053j10c72","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210146619"]},{"id":"https://openalex.org/I80180929","display_name":"Universidad de Murcia","ror":"https://ror.org/03p3aeb86","country_code":"ES","type":"education","lineage":["https://openalex.org/I80180929"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"J. Rivera","raw_affiliation_strings":["On behalf of \u201cGrupo Espa\u00f1ol de Alteraciones Plaquetarias Cong\u00e9nitas (GEAPC)\u201d, Sociedad Espa\u00f1ola de Trombosis y Hemostasia (SETH), Murcia, Spain","Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, Murcia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"On behalf of \u201cGrupo Espa\u00f1ol de Alteraciones Plaquetarias Cong\u00e9nitas (GEAPC)\u201d, Sociedad Espa\u00f1ola de Trombosis y Hemostasia (SETH), Murcia, Spain","institution_ids":["https://openalex.org/I4210103868"]},{"raw_affiliation_string":"Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, Murcia","institution_ids":["https://openalex.org/I4210115362","https://openalex.org/I4210146619","https://openalex.org/I80180929"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038990077","display_name":"Ignacio Garc\u00eda\u2010Tu\u00f1\u00f3n","orcid":"https://orcid.org/0000-0003-4758-2151","observed_orcids":["https://orcid.org/0000-0003-4758-2151"]},"institutions":[{"id":"https://openalex.org/I184999862","display_name":"Universidad de Salamanca","ror":"https://ror.org/02f40zc51","country_code":"ES","type":"education","lineage":["https://openalex.org/I184999862"]},{"id":"https://openalex.org/I4210134045","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca","ror":"https://ror.org/03em6xj44","country_code":"ES","type":"facility","lineage":["https://openalex.org/I184999862","https://openalex.org/I4210099034","https://openalex.org/I4210134045"]},{"id":"https://openalex.org/I4210138819","display_name":"Centro de Investigaci\u00f3n del C\u00e1ncer","ror":"https://ror.org/04rxrdv16","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I184999862","https://openalex.org/I4210138819"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"I. Garc\u00eda-Tu\u00f1\u00f3n","raw_affiliation_strings":["IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain","institution_ids":["https://openalex.org/I184999862","https://openalex.org/I4210134045","https://openalex.org/I4210138819"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067794159","display_name":"Alessandra Balduini","orcid":"https://orcid.org/0000-0003-3145-1245","observed_orcids":["https://orcid.org/0000-0003-3145-1245"]},"institutions":[{"id":"https://openalex.org/I121934306","display_name":"Tufts University","ror":"https://ror.org/05wvpxv85","country_code":"US","type":"education","lineage":["https://openalex.org/I121934306"]},{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]}],"countries":["IT","US"],"is_corresponding":false,"raw_author_name":"A. Balduini","raw_affiliation_strings":["Department of Biomedical Engineering, Tufts University, Medford, United States of America","Department of Molecular Medicine, University of Pavia, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Engineering, Tufts University, Medford, United States of America","institution_ids":["https://openalex.org/I121934306"]},{"raw_affiliation_string":"Department of Molecular Medicine, University of Pavia, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5030109708","display_name":"Jos\u00e9 Mar\u00eda Bastida","orcid":"https://orcid.org/0000-0002-8007-3909","observed_orcids":["https://orcid.org/0000-0002-8007-3909"]},"institutions":[{"id":"https://openalex.org/I184999862","display_name":"Universidad de Salamanca","ror":"https://ror.org/02f40zc51","country_code":"ES","type":"education","lineage":["https://openalex.org/I184999862"]},{"id":"https://openalex.org/I4210099034","display_name":"Complejo Hospitalario de Salamanca","ror":"https://ror.org/0131vfw26","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I184999862","https://openalex.org/I4210099034"]},{"id":"https://openalex.org/I4210103868","display_name":"Sociedad Espa\u00f1ola de Trombosis y Hemostasia","ror":"https://ror.org/01bvxq084","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210103868"]},{"id":"https://openalex.org/I4210134045","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca","ror":"https://ror.org/03em6xj44","country_code":"ES","type":"facility","lineage":["https://openalex.org/I184999862","https://openalex.org/I4210099034","https://openalex.org/I4210134045"]},{"id":"https://openalex.org/I4210138819","display_name":"Centro de Investigaci\u00f3n del C\u00e1ncer","ror":"https://ror.org/04rxrdv16","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I184999862","https://openalex.org/I4210138819"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"J. M. Bastida","raw_affiliation_strings":["Department of Hematology, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca (IBSAL), Universidad de Salamanca (USAL), Salamanca","IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain","On behalf of \u201cGrupo Espa\u00f1ol de Alteraciones Plaquetarias Cong\u00e9nitas (GEAPC)\u201d, Sociedad Espa\u00f1ola de Trombosis y Hemostasia (SETH), Salamanca, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca (IBSAL), Universidad de Salamanca (USAL), Salamanca","institution_ids":["https://openalex.org/I184999862","https://openalex.org/I4210099034","https://openalex.org/I4210134045"]},{"raw_affiliation_string":"IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain","institution_ids":["https://openalex.org/I184999862","https://openalex.org/I4210134045","https://openalex.org/I4210138819"]},{"raw_affiliation_string":"On behalf of \u201cGrupo Espa\u00f1ol de Alteraciones Plaquetarias Cong\u00e9nitas (GEAPC)\u201d, Sociedad Espa\u00f1ola de Trombosis y Hemostasia (SETH), Salamanca, Spain","institution_ids":["https://openalex.org/I4210103868"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":13,"corresponding_author_ids":["https://openalex.org/A5081921887"],"corresponding_institution_ids":["https://openalex.org/I184999862","https://openalex.org/I4210134045","https://openalex.org/I4210138819"],"apc_list":{"value":2480,"currency":"USD","value_usd":2480},"apc_paid":{"value":2480,"currency":"USD","value_usd":2480},"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"6","issue":null,"first_page":"1525","last_page":"1526"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10746","display_name":"Platelet Disorders and Treatments","score":0.9994999766349792,"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":0.9994999766349792,"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":9.999999747378752e-05,"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/T10602","display_name":"Glycosylation and Glycoproteins Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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"}}],"keywords":[{"id":"https://openalex.org/keywords/gale","display_name":"gales","score":0.7519999742507935},{"id":"https://openalex.org/keywords/udp-galactose-4-epimerase","display_name":"UDP-galactose 4-epimerase","score":0.9589999914169312},{"id":"https://openalex.org/keywords/megakaryopoiesis","display_name":"megakaryopoiesis","score":0.9179999828338623},{"id":"https://openalex.org/keywords/protein-glycosylation","display_name":"protein glycosylation","score":0.8169999718666077},{"id":"https://openalex.org/keywords/hypoglycosylation","display_name":"hypoglycosylation","score":0.8550000190734863},{"id":"https://openalex.org/keywords/n-acetylgalactosamine","display_name":"N-acetylgalactosamine","score":0.8569999933242798},{"id":"https://openalex.org/keywords/platelet-membrane-glycoproteins","display_name":"platelet membrane glycoproteins","score":0.7509999871253967},{"id":"https://openalex.org/keywords/glycoprotein-ibalpha","display_name":"GPIb\u03b1","score":0.6510000228881836},{"id":"https://openalex.org/keywords/proplatelet-formation","display_name":"proplatelet formation","score":0.7319999933242798},{"id":"https://openalex.org/keywords/platelet-aggregation","display_name":"platelet aggregation","score":0.515999972820282},{"id":"https://openalex.org/keywords/platelet-secretion","display_name":"platelet secretion","score":0.4090000092983246},{"id":"https://openalex.org/keywords/inherited-platelet-disorders","display_name":"inherited platelet disorders","score":0.8180000185966492},{"id":"https://openalex.org/keywords/hemorrhagic-diathesis","display_name":"bleeding tendency","score":0.6809999942779541},{"id":"https://openalex.org/keywords/mitral-valve-prolapse","display_name":"mitral valve prolapse","score":0.7960000038146973},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.7080000042915344},{"id":"https://openalex.org/keywords/jaundice","display_name":"jaundice","score":0.5860000252723694}],"concepts":[{"id":"https://openalex.org/C89560881","wikidata":"https://www.wikidata.org/wiki/Q101026","display_name":"Platelet","level":2,"score":0.6724621653556824},{"id":"https://openalex.org/C2777313579","wikidata":"https://www.wikidata.org/wiki/Q898365","display_name":"Glycosylation","level":2,"score":0.4586811363697052},{"id":"https://openalex.org/C2776958478","wikidata":"https://www.wikidata.org/wiki/Q14914622","display_name":"Thrombopoiesis","level":5,"score":0.4442730247974396},{"id":"https://openalex.org/C108625454","wikidata":"https://www.wikidata.org/wiki/Q187126","display_name":"Glycoprotein","level":2,"score":0.42327409982681274},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.412043958902359},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.39525318145751953},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.37843936681747437},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.34219300746917725},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.32162582874298096},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.24236425757408142},{"id":"https://openalex.org/C2779705218","wikidata":"https://www.wikidata.org/wiki/Q821701","display_name":"Megakaryocyte","level":4,"score":0.2391972839832306},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.19698578119277954},{"id":"https://openalex.org/C109159458","wikidata":"https://www.wikidata.org/wiki/Q919283","display_name":"Haematopoiesis","level":3,"score":0.08948969841003418},{"id":"https://openalex.org/C28328180","wikidata":"https://www.wikidata.org/wiki/Q48196","display_name":"Stem cell","level":2,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1097/01.hs9.0000849432.35354.e5","doi":"https://doi.org/10.1097/01.hs9.0000849432.35354.e5","is_oa":true,"landing_page_url":"https://doi.org/10.1097/01.hs9.0000849432.35354.e5","pdf_url":null,"source":{"id":"https://openalex.org/S4210211592","display_name":"HemaSphere","issn_l":"2572-9241","issn":["2572-9241"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-2","norway-1","oarl","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"HemaSphere","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9430068","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9430068","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hemasphere","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:602d1874a1be4b73a2ca07ad017964f0","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/602d1874a1be4b73a2ca07ad017964f0","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","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":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"HemaSphere, Vol 6, Pp 1525-1526 (2022)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1097/01.hs9.0000849432.35354.e5","doi":"https://doi.org/10.1097/01.hs9.0000849432.35354.e5","is_oa":true,"landing_page_url":"https://doi.org/10.1097/01.hs9.0000849432.35354.e5","pdf_url":null,"source":{"id":"https://openalex.org/S4210211592","display_name":"HemaSphere","issn_l":"2572-9241","issn":["2572-9241"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-2","norway-1","oarl","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"HemaSphere","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9476000070571899,"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":0,"referenced_works":[],"related_works":["https://openalex.org/W4309231418","https://openalex.org/W2889561989","https://openalex.org/W4322496077","https://openalex.org/W3213725674","https://openalex.org/W4323566356","https://openalex.org/W7154466376","https://openalex.org/W7159986869","https://openalex.org/W4213065766","https://openalex.org/W3095534465","https://openalex.org/W2962370011"],"abstract_inverted_index":{"Background:":[0],"Glycosylation":[1],"is":[2,20,26],"recognized":[3],"as":[4],"a":[5,230],"key":[6],"process":[7],"for":[8],"proper":[9],"megakaryopoiesis":[10,34],"and":[11,47,60,69,89,131,143,194,199,224,242,267,271,298],"platelet":[12,48,185,207,296],"formation.":[13,247],"The":[14],"enzyme":[15],"UDP-galactose-4-epimerase,":[16],"encoded":[17],"by":[18,107,140,149],"GALE,":[19,170],"involved":[21],"in":[22,35,50,67,93,103,161,205,215,222,264,275,295],"protein":[23],"glycosylation.":[24],"There":[25],"currently":[27],"scarce":[28],"information":[29],"about":[30],"the":[31,45,63,94,206,265,276,286],"performance":[32],"of":[33,65,97,127,172,202,227,258,269,273],"patients":[36,52,73],"with":[37,40,53,78,187],"thrombocytopenia":[38,303],"associated":[39,56],"GALE":[41,58,66,104,142,221,287],"variants.":[42],"Aims:":[43],"Assessing":[44],"clinical":[46],"phenotype":[49],"three":[51,171],"syndromic":[54],"macrothrombocytopenia":[55],"to":[57,61,252],"variants,":[59],"investigate":[62],"role":[64,294],"glycosylation":[68,266],"thrombopoiesis.":[70],"Methods:":[71],"Three":[72],"from":[74,155,305,310],"two":[75],"unrelated":[76],"families":[77],"lifelong":[79],"severe":[80],"thrombocytopenia,":[81],"bleeding":[82],"diathesis,":[83],"mental":[84],"retardation,":[85],"mitral":[86],"valve":[87],"prolapse,":[88],"jaundice":[90],"were":[91,105,147,159],"enrolled":[92],"Spanish":[95],"Project":[96],"Inherited":[98],"Platelet":[99,113],"Disorders.":[100],"Biallelic":[101],"variants":[102,168],"identified":[106],"whole-exome":[108],"sequencing":[109],"(WES)":[110],"(Figure":[111,176],"1).":[112,177],"phenotyping":[114],"included":[115],"full":[116],"blood":[117,119,157],"count,":[118],"film,":[120],"light":[121],"transmission":[122],"aggregometry,":[123],"flow":[124],"cytometry":[125],"analysis":[126],"major":[128],"surface":[129,256],"glycoproteins,":[130],"agonist-induced":[132],"granule":[133,196],"secretion.":[134],"UDP-galactose-4-epimerase":[135,209],"enzymatic":[136,210],"activity":[137,211],"was":[138,212],"measured":[139],"HPLC/MS/MS.":[141],"N-acetyl-galactosamine":[144],"(LacNac)":[145],"levels":[146,257],"evaluated":[148],"immunoblotting.":[150],"Human":[151],"megakaryocyte":[152,277],"(Mk)":[153],"culture":[154],"peripheral":[156],"samples":[158],"assessed":[160],"one":[162],"proband.":[163],"Results:":[164],"WES":[165],"revealed":[166],"four":[167],"affecting":[169],"them":[173],"previously":[174],"unreported":[175],"Patients":[178],"showed":[179,219],"giant":[180],"and/or":[181],"grey":[182],"platelets,":[183,254],"impaired":[184,245],"aggregation":[186],"several":[188],"agonists,":[189],"severely":[190,213],"reduced":[191,220],"alpha":[192],"(P-selectin)":[193],"dense":[195],"(CD63)":[197],"secretion,":[198],"significant":[200,225],"decrease":[201],"GPIb\u03b1-IX-V":[203],"complex":[204],"surface.":[208],"decreased":[214],"these":[216],"patients.":[217],"Immunoblotting":[218],"platelets":[223],"reduction":[226,263],"LacNAc,":[228],"suggesting":[229],"hypoglycosylation":[231],"pattern.":[232],"In":[233],"proband":[234],"B.II.2,":[235],"CD34+":[236],"derived":[237],"Mks":[238,249],"exhibited":[239],"normal":[240,255],"ploidy,":[241],"maturation,":[243],"but":[244,261],"proplatelet":[246,307],"These":[248],"showed,":[250],"similarly":[251],"patient":[253],"\u03b23":[259],"integrin,":[260],"remarkable":[262],"externalization":[268],"GPIb\u03b1,":[270],"delocalization":[272],"vWF":[274],"membrane.":[278],"Image:Summary/Conclusion:":[279],"This":[280],"study":[281],"expands":[282],"our":[283],"knowledge":[284],"on":[285],"related":[288],"thrombocytopenic":[289],"disorder,":[290],"emphasizing":[291],"its":[292],"critical":[293],"glycosylation,":[297],"providing":[299],"further":[300],"evidence":[301],"that":[302],"derives":[304],"altered":[306],"formation":[308],"developing":[309],"GPIb\u03b1":[311],"impairment.":[312],"Funding":[313],"PI20/00926,":[314],"GRS2135/A/2020,":[315],"GRS2314/A/2021,":[316],"FMM":[317],"AP172142019":[318]},"counts_by_year":[],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2022-06-25T00:00:00"}
