{"id":"https://openalex.org/W4387980864","doi":"https://doi.org/10.1183/13993003.congress-2023.pa423","title":"Phenotype-genotype correlations of pediatric patients with biallelic mutations in ABCA3 and SFTPB surfactant-related genes","display_name":"Phenotype-genotype correlations of pediatric patients with biallelic mutations in ABCA3 and SFTPB surfactant-related genes","publication_year":2023,"publication_date":"2023-09-09","ids":{"openalex":"https://openalex.org/W4387980864","doi":"https://doi.org/10.1183/13993003.congress-2023.pa423"},"language":"en","primary_location":{"id":"doi:10.1183/13993003.congress-2023.pa423","doi":"https://doi.org/10.1183/13993003.congress-2023.pa423","is_oa":false,"landing_page_url":"https://doi.org/10.1183/13993003.congress-2023.pa423","pdf_url":null,"source":{"id":"https://openalex.org/S4210207896","display_name":"European Respiratory Journal","issn_l":"0903-1936","issn":["0903-1936","1399-3003"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310317833","host_organization_name":"European Respiratory Society","host_organization_lineage":["https://openalex.org/P4310317833"],"host_organization_lineage_names":["European Respiratory Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Rare ILD/DPLD","raw_type":"proceedings-article"},"volume":null,"type":"conference-abstract","is_traditional":false,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://inserm.hal.science/inserm-04212335/file/E-poster%20ERS%20ABCA3_SP-BP_Manon%20FLEURY%20.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Manon Fleury","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210086685","display_name":"H\u00f4pital Armand-Trousseau","ror":"https://ror.org/00yfbr841","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210086685","https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Manon Fleury","raw_affiliation_strings":["AP-HP, H\u00f4pital Trousseau, department of pneumology, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital Trousseau, department of pneumology, Paris, France","institution_ids":["https://openalex.org/I4210086685","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032111922","display_name":"Alice Hadchouel","orcid":"https://orcid.org/0000-0001-7451-9890","observed_orcids":["https://orcid.org/0000-0001-7451-9890"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Alice Hadchouel","raw_affiliation_strings":["AP-HP, H\u00f4pital Universitaire Necker-Enfants Malades, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital Universitaire Necker-Enfants Malades, Paris, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010274226","display_name":"Julie Mazenq","orcid":"https://orcid.org/0000-0002-8257-7107","observed_orcids":["https://orcid.org/0000-0002-8257-7107"]},"institutions":[{"id":"https://openalex.org/I21491767","display_name":"Aix-Marseille Universit\u00e9","ror":"https://ror.org/035xkbk20","country_code":"FR","type":"education","lineage":["https://openalex.org/I21491767"]},{"id":"https://openalex.org/I4210087487","display_name":"Assistance Publique H\u00f4pitaux de Marseille","ror":"https://ror.org/002cp4060","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I21491767","https://openalex.org/I4210087487"]},{"id":"https://openalex.org/I4210162909","display_name":"H\u00f4pital de la Timone","ror":"https://ror.org/05jrr4320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I21491767","https://openalex.org/I4210087487","https://openalex.org/I4210162909"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Julie Mazenq","raw_affiliation_strings":["Pediatric Pulmonology Department, University Timone Hospital for Children, AP-HM, and Aix-Marseille University, MEPHI, Marseille, France, Marseille, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Pulmonology Department, University Timone Hospital for Children, AP-HM, and Aix-Marseille University, MEPHI, Marseille, France, Marseille, France","institution_ids":["https://openalex.org/I21491767","https://openalex.org/I4210087487","https://openalex.org/I4210162909"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5093133274","display_name":"Nouha Jedidi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210102928","display_name":"H\u00f4pital Saint-Antoine","ror":"https://ror.org/01875pg84","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210102928"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nouha Jedidi","raw_affiliation_strings":["Direction de la Recherche Clinique et de l'Innovation (DRCI) de l\u2019AP-HP- Unit\u00e9 de Recherche Clinique de l'Est Parisien-H\u00f4pital Saint-Antoine- Paris-France, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Direction de la Recherche Clinique et de l'Innovation (DRCI) de l\u2019AP-HP- Unit\u00e9 de Recherche Clinique de l'Est Parisien-H\u00f4pital Saint-Antoine- Paris-France, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210102928"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114095970","display_name":"Camille Fletcher","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Camille Fletcher","raw_affiliation_strings":["AP-HP, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, Paris, France","institution_ids":["https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042637279","display_name":"Myriam Benhamida","orcid":"https://orcid.org/0000-0002-0369-2933","observed_orcids":["https://orcid.org/0000-0002-0369-2933"]},"institutions":[{"id":"https://openalex.org/I3019204325","display_name":"Centre Hospitalier Universitaire de Nantes","ror":"https://ror.org/05c1qsg97","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3019204325"]},{"id":"https://openalex.org/I4210134125","display_name":"H\u00f4pital M\u00e8re-Enfant","ror":"https://ror.org/03navsr28","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3019204325","https://openalex.org/I4210134125"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Myriam Benhamida","raw_affiliation_strings":["Clinique M\u00e9dicale de P\u00e9diatrie- H\u00f4pital M\u00e8re-Enfant- CHU\u00a0Nantes -Nantes, Nantes, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinique M\u00e9dicale de P\u00e9diatrie- H\u00f4pital M\u00e8re-Enfant- CHU\u00a0Nantes -Nantes, Nantes, France","institution_ids":["https://openalex.org/I3019204325","https://openalex.org/I4210134125"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029896161","display_name":"Pierrick Cros","orcid":"https://orcid.org/0000-0002-4904-5969","observed_orcids":["https://orcid.org/0000-0002-4904-5969"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Pierrick Cros","raw_affiliation_strings":["Service de p\u00e9diatrie CHU Morvan, Brest, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de p\u00e9diatrie CHU Morvan, Brest, France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001298616","display_name":"Christophe Delacourt","orcid":"https://orcid.org/0000-0002-0007-7150","observed_orcids":["https://orcid.org/0000-0002-0007-7150"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Christophe Delacourt","raw_affiliation_strings":["AP-HP, H\u00f4pital Universitaire Necker-Enfants Malades, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital Universitaire Necker-Enfants Malades, Paris, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089928210","display_name":"J.\u2010C. Dubus","orcid":"https://orcid.org/0000-0003-2078-4140","observed_orcids":["https://orcid.org/0000-0003-2078-4140","https://orcid.org/0009-0001-9539-4772"]},"institutions":[{"id":"https://openalex.org/I21491767","display_name":"Aix-Marseille Universit\u00e9","ror":"https://ror.org/035xkbk20","country_code":"FR","type":"education","lineage":["https://openalex.org/I21491767"]},{"id":"https://openalex.org/I4210087487","display_name":"Assistance Publique H\u00f4pitaux de Marseille","ror":"https://ror.org/002cp4060","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I21491767","https://openalex.org/I4210087487"]},{"id":"https://openalex.org/I4210162909","display_name":"H\u00f4pital de la Timone","ror":"https://ror.org/05jrr4320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I21491767","https://openalex.org/I4210087487","https://openalex.org/I4210162909"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jean-Christophe Dubus","raw_affiliation_strings":["Pediatric Pulmonology Department, University Timone Hospital for Children, AP-HM, and Aix-Marseille University, MEPHI, Marseille, Marseille, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Pulmonology Department, University Timone Hospital for Children, AP-HM, and Aix-Marseille University, MEPHI, Marseille, Marseille, France","institution_ids":["https://openalex.org/I21491767","https://openalex.org/I4210087487","https://openalex.org/I4210162909"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008407940","display_name":"Carole Egron","orcid":"https://orcid.org/0000-0001-5832-3572","observed_orcids":["https://orcid.org/0000-0001-5832-3572"]},"institutions":[{"id":"https://openalex.org/I4210128870","display_name":"Centre Hospitalier Universitaire de Clermont-Ferrand","ror":"https://ror.org/02tcf7a68","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210128870"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Carole Egron","raw_affiliation_strings":["C.H.U Clermont Ferrand, Clermont-Ferrand, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"C.H.U Clermont Ferrand, Clermont-Ferrand, France","institution_ids":["https://openalex.org/I4210128870"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086208852","display_name":"Ralph Epaud","orcid":"https://orcid.org/0000-0003-3830-1039","observed_orcids":["https://orcid.org/0000-0003-3830-1039"]},"institutions":[{"id":"https://openalex.org/I4210159273","display_name":"H\u00f4pital Intercommunal de Cr\u00e9teil","ror":"https://ror.org/04n1nkp35","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210159273"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Ralph Epaud","raw_affiliation_strings":["Centre Hospitalier Intercommunal de Cr\u00e9teil, Cr\u00e9teil, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre Hospitalier Intercommunal de Cr\u00e9teil, Cr\u00e9teil, France","institution_ids":["https://openalex.org/I4210159273"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049716462","display_name":"Michael John Fayon","orcid":"https://orcid.org/0000-0002-1238-2128","observed_orcids":["https://orcid.org/0000-0002-1238-2128"]},"institutions":[{"id":"https://openalex.org/I3018323443","display_name":"Centre Hospitalier Universitaire de Bordeaux","ror":"https://ror.org/01hq89f96","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018323443"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Michael Fayon","raw_affiliation_strings":["C.H.U Bordeaux, Bordeaux, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"C.H.U Bordeaux, Bordeaux, France","institution_ids":["https://openalex.org/I3018323443"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047589648","display_name":"Aude Forgeron","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Aude Forgeron","raw_affiliation_strings":["C.H.U Le Mans, Le Mans, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"C.H.U Le Mans, Le Mans, France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020582768","display_name":"Lisa Giovannini\u2010Chami","orcid":"https://orcid.org/0000-0002-5084-213X","observed_orcids":["https://orcid.org/0000-0002-5084-213X"]},"institutions":[{"id":"https://openalex.org/I3018988418","display_name":"Centre Hospitalier Universitaire de Nice","ror":"https://ror.org/05qsjq305","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018988418"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Lisa Giovanni-Chami","raw_affiliation_strings":["C.H.U Nice, Nice, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"C.H.U Nice, Nice, France","institution_ids":["https://openalex.org/I3018988418"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043078952","display_name":"Caroline P\u00e9risson","orcid":"https://orcid.org/0009-0000-6606-0821","observed_orcids":["https://orcid.org/0009-0000-6606-0821"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Caroline Perisson","raw_affiliation_strings":["C.H.U Sud La R\u00e9union, La R\u00e9union, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"C.H.U Sud La R\u00e9union, La R\u00e9union, France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080842209","display_name":"Hortense Petat","orcid":"https://orcid.org/0000-0003-2843-871X","observed_orcids":["https://orcid.org/0000-0003-2843-871X"]},"institutions":[{"id":"https://openalex.org/I4210090119","display_name":"H\u00f4pital Charles-Nicolle","ror":"https://ror.org/00cxy0s05","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210090119","https://openalex.org/I4210154623"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Hortense Petat","raw_affiliation_strings":["e-CHU Charles Nicolle - Rouen - Service de P\u00e9diatrie G\u00e9n\u00e9rale, Rouen, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"e-CHU Charles Nicolle - Rouen - Service de P\u00e9diatrie G\u00e9n\u00e9rale, Rouen, France","institution_ids":["https://openalex.org/I4210090119"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112130285","display_name":"Marie\u2010Catherine Renoux","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Marie-Catherine Renoux","raw_affiliation_strings":["C.H.U Montpellier, Montpellier, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"C.H.U Montpellier, Montpellier, France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058081260","display_name":"L\u00e9a Roditis","orcid":"https://orcid.org/0000-0002-5599-2962","observed_orcids":["https://orcid.org/0000-0002-5599-2962"]},"institutions":[{"id":"https://openalex.org/I3019448017","display_name":"Centre Hospitalier Universitaire de Toulouse","ror":"https://ror.org/017h5q109","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3019448017"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"L\u00e9a Roditis","raw_affiliation_strings":["C.H.U Toulouse, Toulouse, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"C.H.U Toulouse, Toulouse, France","institution_ids":["https://openalex.org/I3019448017"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016850961","display_name":"C. Thumerelle","orcid":"https://orcid.org/0000-0002-3365-2035","observed_orcids":["https://orcid.org/0000-0002-3365-2035"]},"institutions":[{"id":"https://openalex.org/I3018718406","display_name":"Centre Hospitalier Universitaire de Lille","ror":"https://ror.org/02ppyfa04","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Caroline Thumerelle","raw_affiliation_strings":["C.H.U Lille, Lille, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"C.H.U Lille, Lille, France","institution_ids":["https://openalex.org/I3018718406"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072333496","display_name":"Cl\u00e9mentine Vigier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210155724","display_name":"Centre Hospitalier Universitaire de Rennes","ror":"https://ror.org/05qec5a53","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210155724"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Cl\u00e9mentine Vigier","raw_affiliation_strings":["C.H.U Rennes, Rennes, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"C.H.U Rennes, Rennes, France","institution_ids":["https://openalex.org/I4210155724"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5093133273","display_name":"Aurore Couloumb","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210086685","display_name":"H\u00f4pital Armand-Trousseau","ror":"https://ror.org/00yfbr841","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210086685","https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Aurore Couloumb","raw_affiliation_strings":["AP-HP, H\u00f4pital Trousseau, Department of Pathology, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital Trousseau, Department of Pathology, Paris, France","institution_ids":["https://openalex.org/I4210086685","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005668807","display_name":"Laureline Berteloot","orcid":"https://orcid.org/0000-0001-9681-3142","observed_orcids":["https://orcid.org/0000-0001-9681-3142"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Laureline Berteloot","raw_affiliation_strings":["AP-HP, H\u00f4pital Universitaire Necker-Enfants Malades, department of radiology, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital Universitaire Necker-Enfants Malades, department of radiology, Paris, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089267619","display_name":"Chiara Sil\u00e9o","orcid":"https://orcid.org/0000-0001-6406-1951","observed_orcids":["https://orcid.org/0000-0001-6406-1951"]},"institutions":[{"id":"https://openalex.org/I4210086685","display_name":"H\u00f4pital Armand-Trousseau","ror":"https://ror.org/00yfbr841","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210086685","https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Chiara Sileo","raw_affiliation_strings":["AP-HP, H\u00f4pital Trousseau, department of radiology, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital Trousseau, department of radiology, Paris, France","institution_ids":["https://openalex.org/I4210086685","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017574313","display_name":"Alix de Becdeli\u00e8vre","orcid":"https://orcid.org/0000-0002-0488-3475","observed_orcids":["https://orcid.org/0000-0002-0488-3475"]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210130325","display_name":"H\u00f4pitaux Universitaires Henri-Mondor","ror":"https://ror.org/033yb0967","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210130325"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Alix De Becdeli\u00e8vre","raw_affiliation_strings":["AP-HP, H\u00f4pital Mondor, Molecular Genetics unit, Cr\u00e9teil, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital Mondor, Molecular Genetics unit, Cr\u00e9teil, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210130325"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054195388","display_name":"Pascale Fanen","orcid":"https://orcid.org/0000-0002-3273-5349","observed_orcids":["https://orcid.org/0000-0002-3273-5349"]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Pascale Fanen","raw_affiliation_strings":["AP-HP, H\u00f4pital Mondor, Molecular Genetics unit, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital Mondor, Molecular Genetics unit, Paris, France","institution_ids":["https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045033593","display_name":"Marie Legendre","orcid":"https://orcid.org/0000-0003-2178-0846","observed_orcids":["https://orcid.org/0000-0003-2178-0846"]},"institutions":[{"id":"https://openalex.org/I4210086685","display_name":"H\u00f4pital Armand-Trousseau","ror":"https://ror.org/00yfbr841","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210086685","https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Marie Legendre","raw_affiliation_strings":["AP-HP, H\u00f4pital Trousseau, Molecular Genetics unit, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital Trousseau, Molecular Genetics unit, Paris, France","institution_ids":["https://openalex.org/I4210086685","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054707607","display_name":"Camille Louvrier","orcid":"https://orcid.org/0000-0003-2105-1117","observed_orcids":["https://orcid.org/0000-0003-2105-1117"]},"institutions":[{"id":"https://openalex.org/I4210086685","display_name":"H\u00f4pital Armand-Trousseau","ror":"https://ror.org/00yfbr841","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210086685","https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Camille Louvrier","raw_affiliation_strings":["AP-HP, H\u00f4pital Trousseau, Molecular Genetics unit, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital Trousseau, Molecular Genetics unit, Paris, France","institution_ids":["https://openalex.org/I4210086685","https://openalex.org/I4210097159"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5043499138","display_name":"Nadia Nathan","orcid":"https://orcid.org/0000-0001-5149-7975","observed_orcids":["https://orcid.org/0000-0001-5149-7975"]},"institutions":[{"id":"https://openalex.org/I4210086685","display_name":"H\u00f4pital Armand-Trousseau","ror":"https://ror.org/00yfbr841","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210086685","https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nadia Nathan","raw_affiliation_strings":["AP-HP, H\u00f4pital Trousseau, department of pneumology, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital Trousseau, department of pneumology, Paris, France","institution_ids":["https://openalex.org/I4210086685","https://openalex.org/I4210097159"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":18,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"PA423","last_page":"PA423"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10870","display_name":"Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis","score":0.4839000105857849,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T10870","display_name":"Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis","score":0.4839000105857849,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T10549","display_name":"Neonatal Respiratory Health Research","score":0.3418000042438507,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.07129999995231628,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/abca3","display_name":"ABCA3","score":0.7080000042915344},{"id":"https://openalex.org/keywords/surfactant-protein-b","display_name":"surfactant protein B","score":0.9660000205039978},{"id":"https://openalex.org/keywords/childhood-interstitial-lung-disease","display_name":"childhood interstitial lung disease","score":0.8679999709129333},{"id":"https://openalex.org/keywords/biallelic-mutations","display_name":"biallelic variants","score":0.9369999766349792},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8709999918937683},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.9259999990463257},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.7689999938011169}],"concepts":[{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.6331630945205688},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6073884963989258},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.535123348236084},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.49528756737709045},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4825938940048218},{"id":"https://openalex.org/C200844832","wikidata":"https://www.wikidata.org/wiki/Q5533517","display_name":"Genotype-phenotype distinction","level":4,"score":0.46945470571517944},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.43914148211479187},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.37746962904930115},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.34760308265686035},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.32385921478271484}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1183/13993003.congress-2023.pa423","doi":"https://doi.org/10.1183/13993003.congress-2023.pa423","is_oa":false,"landing_page_url":"https://doi.org/10.1183/13993003.congress-2023.pa423","pdf_url":null,"source":{"id":"https://openalex.org/S4210207896","display_name":"European Respiratory Journal","issn_l":"0903-1936","issn":["0903-1936","1399-3003"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310317833","host_organization_name":"European Respiratory Society","host_organization_lineage":["https://openalex.org/P4310317833"],"host_organization_lineage_names":["European Respiratory Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Rare ILD/DPLD","raw_type":"proceedings-article"},{"id":"pmh:oai:HAL:inserm-04212335v1","doi":null,"is_oa":true,"landing_page_url":"https://inserm.hal.science/inserm-04212335","pdf_url":"https://inserm.hal.science/inserm-04212335/file/E-poster%20ERS%20ABCA3_SP-BP_Manon%20FLEURY%20.pdf","source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"European Respiratory Society, Sep 2023, Milan (Italie), Italy","raw_type":"info:eu-repo/semantics/conferenceObject"}],"best_oa_location":{"id":"pmh:oai:HAL:inserm-04212335v1","doi":null,"is_oa":true,"landing_page_url":"https://inserm.hal.science/inserm-04212335","pdf_url":"https://inserm.hal.science/inserm-04212335/file/E-poster%20ERS%20ABCA3_SP-BP_Manon%20FLEURY%20.pdf","source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"European Respiratory Society, Sep 2023, Milan (Italie), Italy","raw_type":"info:eu-repo/semantics/conferenceObject"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9922999739646912,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4387980864.pdf","grobid_xml":"https://content.openalex.org/works/W4387980864.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3048210885","https://openalex.org/W2946713275","https://openalex.org/W3031507500","https://openalex.org/W2071229169","https://openalex.org/W4415219357","https://openalex.org/W7095533807","https://openalex.org/W2166661291","https://openalex.org/W1971618810","https://openalex.org/W7125531019","https://openalex.org/W2089077868"],"abstract_inverted_index":{"Background":[0],":":[1,123,140,176],"Among":[2,141],"childhood":[3],"interstitial":[4],"lung":[5],"diseases":[6],"(chILD)":[7],"etiologies,":[8],"the":[9,19,39,92,106,142,147,178,198],"main":[10,84],"genetic":[11,120],"causes":[12,42],"are":[13,38,172,188],"surfactant":[14],"metabolism":[15],"disorders.":[16],"Mutations":[17],"in":[18,25,70,79,105,146,159,167],"ATP-binding-cassette":[20],"transporter":[21],"A3":[22],"(ABCA3)":[23],"and":[24,31,96,102,110,119,137,161,180],"SFTPB":[26,80,201],"genes":[27],"lead":[28],"to":[29,63,90,111,185,191],"ABCA3":[30,52,60,101,160,186],"SP-B":[32,103],"deficiencies.":[33],"Both":[34],"recessive":[35,75],"diseases,":[36],"they":[37],"most":[40],"severe":[41],"of":[43,51,59,86,98,182],"chILD.":[44],"More":[45,72],"than":[46,73],"200":[47],"different":[48],"pathogenic":[49],"mutations":[50,61,78,158,166,187,202],"were":[53,81,133],"described":[54],"since":[55],"2004.":[56],"A":[57],"classification":[58],"according":[62],"their":[64],"predicted":[65],"functional":[66],"effect":[67],"was":[68],"proposed":[69],"2014.":[71],"40":[74,154],"loss-of":[76],"function":[77],"identified.":[82],"The":[83],"goal":[85],"this":[87,195],"study":[88],"is":[89,125,196,205],"describe":[91],"initial":[93],"clinical":[94],"presentation":[95,179],"evolution":[97,181],"patients":[99,144,155,163],"with":[100],"deficiency":[104],"French":[107],"RespiRare":[108,149],"cohort":[109],"establish":[112,192],"phenotype-genotype":[113,193],"correlations":[114],"that":[115],"could":[116],"guide":[117],"management":[118],"counseling.":[121],"Methods":[122],"This":[124],"an":[126],"observational,":[127],"descriptive,":[128],"retrospective,":[129],"multicenter":[130],"study.":[131],"Data":[132],"collected":[134],"between":[135],"2000":[136],"2023.":[138],"Results":[139],"623":[143],"followed":[145],"41":[148],"pediatric":[150],"centers":[151],"for":[152,200],"ILD,":[153],"had":[156],"bi-allelic":[157,165],"12":[162],"carried":[164],"SFTPB.":[168],"Their":[169],"phenotypic":[170],"characteristics":[171],"being":[173],"analyzed.":[174],"Conclusion":[175],"Whereas":[177],"chILD":[183],"due":[184],"variable,":[189],"allowing":[190],"correlations,":[194],"not":[197],"case":[199],"whose":[203],"phenotype":[204],"always":[206],"very":[207],"severe.":[208]},"counts_by_year":[],"updated_date":"2026-11-02T09:45:03.842371","created_date":"2023-10-28T00:00:00"}