{"id":"https://openalex.org/W2897278516","doi":"https://doi.org/10.1016/j.bcmd.2018.10.006","title":"Variable expressivity of HJV related hemochromatosis: \u201cJuvenile\u201d hemochromatosis?","display_name":"Variable expressivity of HJV related hemochromatosis: \u201cJuvenile\u201d hemochromatosis?","publication_year":2018,"publication_date":"2018-10-22","ids":{"openalex":"https://openalex.org/W2897278516","doi":"https://doi.org/10.1016/j.bcmd.2018.10.006","mag":"2897278516","pmid":"https://pubmed.ncbi.nlm.nih.gov/30389309"},"language":"en","primary_location":{"id":"doi:10.1016/j.bcmd.2018.10.006","doi":"https://doi.org/10.1016/j.bcmd.2018.10.006","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.bcmd.2018.10.006","pdf_url":null,"source":{"id":"https://openalex.org/S183588319","display_name":"Blood Cells Molecules and Diseases","issn_l":"1079-9796","issn":["1079-9796","1096-0961"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood Cells, Molecules, and Diseases","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://univ-rennes.hal.science/hal-01950953","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033027184","display_name":"Houda Hamdi\u2010Roz\u00e9","orcid":"https://orcid.org/0000-0003-2175-9190","observed_orcids":["https://orcid.org/0000-0003-2175-9190"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210127029","display_name":"Institut de g\u00e9n\u00e9tique et de d\u00e9veloppement de Rennes","ror":"https://ror.org/036xhtv26","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I4210096427","https://openalex.org/I4210127029","https://openalex.org/I56067802"]},{"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"]},{"id":"https://openalex.org/I56067802","display_name":"Universit\u00e9 de Rennes","ror":"https://ror.org/015m7wh34","country_code":"FR","type":"education","lineage":["https://openalex.org/I56067802"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Houda Hamdi-Roz\u00e9","raw_affiliation_strings":["Univ Rennes, CHU Rennes, INSERM, French Reference Center for Hemochromatosis and Iron Metabolism Disease, F-35000 Rennes, France; Univ Rennes, CHU Rennes, CNRS, IGDR, UMR 6290, Molecular Genetics Department, F-35000 Rennes, France. Electronic address: houda.hamdi@chu-rennes.fr","Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou] (2 Rue Henri le Guilloux, 35000 Rennes - France)","Centre de r\u00e9f\u00e9rence des surcharges en fer rares d'origine g\u00e9n\u00e9tique (CHU Rennes, 2 Rue Henri le Guilloux 35000 Rennes - France)","IGDR - Institut de G\u00e9n\u00e9tique et D\u00e9veloppement de Rennes (Facult\u00e9 de M\u00e9decine - CS 34317 2 Av du Professeur L\u00e9on Bernard 35043 Rennes Cedex - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Univ Rennes, CHU Rennes, INSERM, French Reference Center for Hemochromatosis and Iron Metabolism Disease, F-35000 Rennes, France; Univ Rennes, CHU Rennes, CNRS, IGDR, UMR 6290, Molecular Genetics Department, F-35000 Rennes, France. Electronic address: houda.hamdi@chu-rennes.fr","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210127029","https://openalex.org/I4210155724","https://openalex.org/I56067802"]},{"raw_affiliation_string":"Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou] (2 Rue Henri le Guilloux, 35000 Rennes - France)","institution_ids":["https://openalex.org/I4210155724"]},{"raw_affiliation_string":"Centre de r\u00e9f\u00e9rence des surcharges en fer rares d'origine g\u00e9n\u00e9tique (CHU Rennes, 2 Rue Henri le Guilloux 35000 Rennes - France)","institution_ids":["https://openalex.org/I4210155724"]},{"raw_affiliation_string":"IGDR - Institut de G\u00e9n\u00e9tique et D\u00e9veloppement de Rennes (Facult\u00e9 de M\u00e9decine - CS 34317 2 Av du Professeur L\u00e9on Bernard 35043 Rennes Cedex - France)","institution_ids":["https://openalex.org/I4210127029"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068196739","display_name":"Zeineb Ben Ali","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"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"]},{"id":"https://openalex.org/I56067802","display_name":"Universit\u00e9 de Rennes","ror":"https://ror.org/015m7wh34","country_code":"FR","type":"education","lineage":["https://openalex.org/I56067802"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Zeineb Ben Ali","raw_affiliation_strings":["Univ Rennes, CHU Rennes, INSERM, French Reference Center for Hemochromatosis and Iron Metabolism Disease, F-35000 Rennes, France; Univ Rennes, CHU Rennes, INSERM, Liver Disease Department, F-35000 Rennes, France","Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou] (2 Rue Henri le Guilloux, 35000 Rennes - France)","Centre de r\u00e9f\u00e9rence des surcharges en fer rares d'origine g\u00e9n\u00e9tique (CHU Rennes, 2 Rue Henri le Guilloux 35000 Rennes - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Univ Rennes, CHU Rennes, INSERM, French Reference Center for Hemochromatosis and Iron Metabolism Disease, F-35000 Rennes, France; Univ Rennes, CHU Rennes, INSERM, Liver Disease Department, F-35000 Rennes, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210155724","https://openalex.org/I56067802"]},{"raw_affiliation_string":"Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou] (2 Rue Henri le Guilloux, 35000 Rennes - France)","institution_ids":["https://openalex.org/I4210155724"]},{"raw_affiliation_string":"Centre de r\u00e9f\u00e9rence des surcharges en fer rares d'origine g\u00e9n\u00e9tique (CHU Rennes, 2 Rue Henri le Guilloux 35000 Rennes - France)","institution_ids":["https://openalex.org/I4210155724"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009932512","display_name":"Martine Ropert","orcid":"https://orcid.org/0000-0003-1227-9427","observed_orcids":["https://orcid.org/0000-0003-1227-9427"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"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"]},{"id":"https://openalex.org/I56067802","display_name":"Universit\u00e9 de Rennes","ror":"https://ror.org/015m7wh34","country_code":"FR","type":"education","lineage":["https://openalex.org/I56067802"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Martine Ropert","raw_affiliation_strings":["Univ Rennes, CHU Rennes, INSERM, French Reference Center for Hemochromatosis and Iron Metabolism Disease, F-35000 Rennes, France; Univ Rennes, CHU Rennes, INSERM, Biochemistry Department, F-35000 Rennes, France","Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou] (2 Rue Henri le Guilloux, 35000 Rennes - France)","Centre de r\u00e9f\u00e9rence des surcharges en fer rares d'origine g\u00e9n\u00e9tique (CHU Rennes, 2 Rue Henri le Guilloux 35000 Rennes - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Univ Rennes, CHU Rennes, INSERM, French Reference Center for Hemochromatosis and Iron Metabolism Disease, F-35000 Rennes, France; Univ Rennes, CHU Rennes, INSERM, Biochemistry Department, F-35000 Rennes, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210155724","https://openalex.org/I56067802"]},{"raw_affiliation_string":"Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou] (2 Rue Henri le Guilloux, 35000 Rennes - France)","institution_ids":["https://openalex.org/I4210155724"]},{"raw_affiliation_string":"Centre de r\u00e9f\u00e9rence des surcharges en fer rares d'origine g\u00e9n\u00e9tique (CHU Rennes, 2 Rue Henri le Guilloux 35000 Rennes - France)","institution_ids":["https://openalex.org/I4210155724"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005554177","display_name":"L\u00e9na\u0131\u0308ck D\u00e9tivaud","orcid":"https://orcid.org/0000-0001-8178-991X","observed_orcids":["https://orcid.org/0000-0001-8178-991X"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"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"]},{"id":"https://openalex.org/I4387156410","display_name":"Nutrition, m\u00e9tabolismes et cancer","ror":"https://ror.org/03zb6nw87","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I4210088668","https://openalex.org/I4387156410","https://openalex.org/I56067802"]},{"id":"https://openalex.org/I4405258264","display_name":"Universit\u00e9 Rennes 1","ror":"https://ror.org/00crteh33","country_code":"FR","type":"education","lineage":["https://openalex.org/I4405258264","https://openalex.org/I56067802"]},{"id":"https://openalex.org/I56067802","display_name":"Universit\u00e9 de Rennes","ror":"https://ror.org/015m7wh34","country_code":"FR","type":"education","lineage":["https://openalex.org/I56067802"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"L\u00e9na\u00efck Detivaud","raw_affiliation_strings":["Univ Rennes, CHU Rennes, INSERM, French Reference Center for Hemochromatosis and Iron Metabolism Disease, F-35000 Rennes, France","NuMeCan - Nutrition, M\u00e9tabolismes et Cancer (Campus Villejean (B\u00e2t 8) - CHU Rennes (B\u00e2t 15) - Universit\u00e9 de Rennes 1, 2 Avenue du Professeur L\u00e9on Bernard, 35043 Rennes, France - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Univ Rennes, CHU Rennes, INSERM, French Reference Center for Hemochromatosis and Iron Metabolism Disease, F-35000 Rennes, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210155724","https://openalex.org/I56067802"]},{"raw_affiliation_string":"NuMeCan - Nutrition, M\u00e9tabolismes et Cancer (Campus Villejean (B\u00e2t 8) - CHU Rennes (B\u00e2t 15) - Universit\u00e9 de Rennes 1, 2 Avenue du Professeur L\u00e9on Bernard, 35043 Rennes, France - France)","institution_ids":["https://openalex.org/I4210155724","https://openalex.org/I4387156410","https://openalex.org/I4405258264","https://openalex.org/I56067802"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083131987","display_name":"Samira Aggoune","orcid":"https://orcid.org/0000-0002-6013-8066","observed_orcids":["https://orcid.org/0000-0002-6013-8066"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Samira Aggoune","raw_affiliation_strings":["EPH Belfort, Pediatric Department, El Harrach, Alger 16000, Algeria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"EPH Belfort, Pediatric Department, El Harrach, Alger 16000, Algeria","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108459218","display_name":"Dominique Simon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Dominique Simon","raw_affiliation_strings":["Hopital Universitaire Robert-Debr\u00e9, Endocrinology and Pediatric Diabetology, Paris 75019, France","H\u00f4pital Robert Debr\u00e9 (France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hopital Universitaire Robert-Debr\u00e9, Endocrinology and Pediatric Diabetology, Paris 75019, France","institution_ids":["https://openalex.org/I4210126712"]},{"raw_affiliation_string":"H\u00f4pital Robert Debr\u00e9 (France)","institution_ids":["https://openalex.org/I4210126712"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113728246","display_name":"Gilles Pelletier","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/I4210162942","display_name":"Bic\u00eatre Hospital","ror":"https://ror.org/05c9p1x46","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210162942","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Gilles Pelletier","raw_affiliation_strings":["Hopital Bic\u00eatre, Hepatogastroenterology, Le Kremlin-Bic\u00eatre 94275, France","H\u00f4pital Bic\u00eatre [AP-HP, Le Kremlin-Bic\u00eatre] (78 Rue du G\u00e9n\u00e9ral Leclerc 94270 Le Kremlin-Bic\u00eatre - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hopital Bic\u00eatre, Hepatogastroenterology, Le Kremlin-Bic\u00eatre 94275, France","institution_ids":["https://openalex.org/I4210162942"]},{"raw_affiliation_string":"H\u00f4pital Bic\u00eatre [AP-HP, Le Kremlin-Bic\u00eatre] (78 Rue du G\u00e9n\u00e9ral Leclerc 94270 Le Kremlin-Bic\u00eatre - France)","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210162942"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037387825","display_name":"Yves Deugnier","orcid":"https://orcid.org/0000-0002-2796-2571","observed_orcids":["https://orcid.org/0000-0002-2796-2571"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"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"]},{"id":"https://openalex.org/I56067802","display_name":"Universit\u00e9 de Rennes","ror":"https://ror.org/015m7wh34","country_code":"FR","type":"education","lineage":["https://openalex.org/I56067802"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Yves Deugnier","raw_affiliation_strings":["Univ Rennes, CHU Rennes, INSERM, French Reference Center for Hemochromatosis and Iron Metabolism Disease, F-35000 Rennes, France; Univ Rennes, CHU Rennes, INSERM, Liver Disease Department, F-35000 Rennes, France","Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou] (2 Rue Henri le Guilloux, 35000 Rennes - France)","Centre de r\u00e9f\u00e9rence des surcharges en fer rares d'origine g\u00e9n\u00e9tique (CHU Rennes, 2 Rue Henri le Guilloux 35000 Rennes - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Univ Rennes, CHU Rennes, INSERM, French Reference Center for Hemochromatosis and Iron Metabolism Disease, F-35000 Rennes, France; Univ Rennes, CHU Rennes, INSERM, Liver Disease Department, F-35000 Rennes, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210155724","https://openalex.org/I56067802"]},{"raw_affiliation_string":"Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou] (2 Rue Henri le Guilloux, 35000 Rennes - France)","institution_ids":["https://openalex.org/I4210155724"]},{"raw_affiliation_string":"Centre de r\u00e9f\u00e9rence des surcharges en fer rares d'origine g\u00e9n\u00e9tique (CHU Rennes, 2 Rue Henri le Guilloux 35000 Rennes - France)","institution_ids":["https://openalex.org/I4210155724"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102798573","display_name":"V\u00e9ronique David","orcid":"https://orcid.org/0000-0003-1489-1345","observed_orcids":["https://orcid.org/0000-0003-1489-1345"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I4210127029","display_name":"Institut de g\u00e9n\u00e9tique et de d\u00e9veloppement de Rennes","ror":"https://ror.org/036xhtv26","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I4210096427","https://openalex.org/I4210127029","https://openalex.org/I56067802"]},{"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"]},{"id":"https://openalex.org/I56067802","display_name":"Universit\u00e9 de Rennes","ror":"https://ror.org/015m7wh34","country_code":"FR","type":"education","lineage":["https://openalex.org/I56067802"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"V\u00e9ronique David","raw_affiliation_strings":["Univ Rennes, CHU Rennes, CNRS, IGDR, UMR 6290, Molecular Genetics Department, F-35000 Rennes, France","IGDR - Institut de G\u00e9n\u00e9tique et D\u00e9veloppement de Rennes (Facult\u00e9 de M\u00e9decine - CS 34317 2 Av du Professeur L\u00e9on Bernard 35043 Rennes Cedex - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Univ Rennes, CHU Rennes, CNRS, IGDR, UMR 6290, Molecular Genetics Department, F-35000 Rennes, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I4210127029","https://openalex.org/I4210155724","https://openalex.org/I56067802"]},{"raw_affiliation_string":"IGDR - Institut de G\u00e9n\u00e9tique et D\u00e9veloppement de Rennes (Facult\u00e9 de M\u00e9decine - CS 34317 2 Av du Professeur L\u00e9on Bernard 35043 Rennes Cedex - France)","institution_ids":["https://openalex.org/I4210127029"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5022945624","display_name":"Edouard Bardou\u2010Jacquet","orcid":"https://orcid.org/0000-0002-0784-0710","observed_orcids":["https://orcid.org/0000-0002-0784-0710"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"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"]},{"id":"https://openalex.org/I4387156410","display_name":"Nutrition, m\u00e9tabolismes et cancer","ror":"https://ror.org/03zb6nw87","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I4210088668","https://openalex.org/I4387156410","https://openalex.org/I56067802"]},{"id":"https://openalex.org/I4405258264","display_name":"Universit\u00e9 Rennes 1","ror":"https://ror.org/00crteh33","country_code":"FR","type":"education","lineage":["https://openalex.org/I4405258264","https://openalex.org/I56067802"]},{"id":"https://openalex.org/I56067802","display_name":"Universit\u00e9 de Rennes","ror":"https://ror.org/015m7wh34","country_code":"FR","type":"education","lineage":["https://openalex.org/I56067802"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Edouard Bardou-Jacquet","raw_affiliation_strings":["Univ Rennes, CHU Rennes, INSERM, French Reference Center for Hemochromatosis and Iron Metabolism Disease, F-35000 Rennes, France; Univ Rennes, CHU Rennes, INSERM, Liver Disease Department, F-35000 Rennes, France","Centre de r\u00e9f\u00e9rence des surcharges en fer rares d'origine g\u00e9n\u00e9tique (CHU Rennes, 2 Rue Henri le Guilloux 35000 Rennes - France)","NuMeCan - Nutrition, M\u00e9tabolismes et Cancer (Campus Villejean (B\u00e2t 8) - CHU Rennes (B\u00e2t 15) - Universit\u00e9 de Rennes 1, 2 Avenue du Professeur L\u00e9on Bernard, 35043 Rennes, France - France)"],"raw_orcid":"https://orcid.org/0000-0002-0784-0710","affiliations":[{"raw_affiliation_string":"Univ Rennes, CHU Rennes, INSERM, French Reference Center for Hemochromatosis and Iron Metabolism Disease, F-35000 Rennes, France; Univ Rennes, CHU Rennes, INSERM, Liver Disease Department, F-35000 Rennes, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210155724","https://openalex.org/I56067802"]},{"raw_affiliation_string":"Centre de r\u00e9f\u00e9rence des surcharges en fer rares d'origine g\u00e9n\u00e9tique (CHU Rennes, 2 Rue Henri le Guilloux 35000 Rennes - France)","institution_ids":["https://openalex.org/I4210155724"]},{"raw_affiliation_string":"NuMeCan - Nutrition, M\u00e9tabolismes et Cancer (Campus Villejean (B\u00e2t 8) - CHU Rennes (B\u00e2t 15) - Universit\u00e9 de Rennes 1, 2 Avenue du Professeur L\u00e9on Bernard, 35043 Rennes, France - France)","institution_ids":["https://openalex.org/I4210155724","https://openalex.org/I4387156410","https://openalex.org/I4405258264","https://openalex.org/I56067802"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":10,"corresponding_author_ids":["https://openalex.org/A5033027184"],"corresponding_institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210127029","https://openalex.org/I4210155724","https://openalex.org/I56067802"],"apc_list":{"value":4030,"currency":"USD","value_usd":4030},"apc_paid":null,"fwci":1.2778,"has_fulltext":false,"cited_by_count":15,"citation_normalized_percentile":{"value":0.80797315,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"74","issue":null,"first_page":"30","last_page":"33"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","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/T10452","display_name":"Iron Metabolism and Disorders","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/T13481","display_name":"Neurological diseases and metabolism","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/juvenile-hemochromatosis","display_name":"juvenile hemochromatosis","score":0.8600000143051147},{"id":"https://openalex.org/keywords/iron-overload","display_name":"iron overload","score":0.7250000238418579},{"id":"https://openalex.org/keywords/hfe-hemochromatosis","display_name":"HFE hemochromatosis","score":0.8600000143051147},{"id":"https://openalex.org/keywords/variable-expressivity","display_name":"variable expressivity","score":0.7239999771118164},{"id":"https://openalex.org/keywords/hepcidin","display_name":"hepcidin","score":0.5220000147819519},{"id":"https://openalex.org/keywords/transferrin-receptor-2","display_name":"transferrin receptor 2","score":0.984000027179718},{"id":"https://openalex.org/keywords/slc40a1","display_name":"SLC40A1","score":0.996999979019165},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.5910000205039978},{"id":"https://openalex.org/keywords/novel-variants","display_name":"novel variants","score":0.4090000092983246}],"concepts":[{"id":"https://openalex.org/C2776590208","wikidata":"https://www.wikidata.org/wiki/Q2025687","display_name":"Hemochromatosis","level":2,"score":0.8969401121139526},{"id":"https://openalex.org/C2777588556","wikidata":"https://www.wikidata.org/wiki/Q14882371","display_name":"HAMP","level":4,"score":0.8565114736557007},{"id":"https://openalex.org/C2776768029","wikidata":"https://www.wikidata.org/wiki/Q14882371","display_name":"Hepcidin","level":3,"score":0.7699102759361267},{"id":"https://openalex.org/C3018783601","wikidata":"https://www.wikidata.org/wiki/Q3144934","display_name":"Hereditary hemochromatosis","level":3,"score":0.6916767358779907},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6034337282180786},{"id":"https://openalex.org/C153852466","wikidata":"https://www.wikidata.org/wiki/Q907072","display_name":"Transferrin saturation","level":4,"score":0.559349536895752},{"id":"https://openalex.org/C2777357209","wikidata":"https://www.wikidata.org/wiki/Q3595842","display_name":"Phlebotomy","level":2,"score":0.5013546943664551},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.4292132556438446},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3976937532424927},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.33884158730506897},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.32707589864730835},{"id":"https://openalex.org/C2777417653","wikidata":"https://www.wikidata.org/wiki/Q1313081","display_name":"Iron deficiency","level":3,"score":0.23649749159812927},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.22269204258918762},{"id":"https://openalex.org/C2778248108","wikidata":"https://www.wikidata.org/wiki/Q5445","display_name":"Anemia","level":2,"score":0.1387283205986023}],"mesh":[{"descriptor_ui":"D000071020","descriptor_name":"Hemochromatosis Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006432","descriptor_name":"Hemochromatosis","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D006432","descriptor_name":"Hemochromatosis","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014168","descriptor_name":"Transferrin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019190","descriptor_name":"Iron Overload","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058851","descriptor_name":"GPI-Linked Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D064451","descriptor_name":"Hepcidins","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1016/j.bcmd.2018.10.006","doi":"https://doi.org/10.1016/j.bcmd.2018.10.006","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.bcmd.2018.10.006","pdf_url":null,"source":{"id":"https://openalex.org/S183588319","display_name":"Blood Cells Molecules and Diseases","issn_l":"1079-9796","issn":["1079-9796","1096-0961"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood Cells, Molecules, and Diseases","raw_type":"journal-article"},{"id":"pmid:30389309","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30389309","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":"Blood cells, molecules & diseases","raw_type":"Journal Article"},{"id":"pmh:oai:HAL:hal-01950953v1","doi":null,"is_oa":true,"landing_page_url":"https://univ-rennes.hal.science/hal-01950953","pdf_url":null,"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":"Blood Cells, Molecules and Diseases, 2019, 74, pp.30-33. ⟨10.1016/j.bcmd.2018.10.006⟩","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"pmh:oai:HAL:hal-01950953v1","doi":null,"is_oa":true,"landing_page_url":"https://univ-rennes.hal.science/hal-01950953","pdf_url":null,"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":"Blood Cells, Molecules and Diseases, 2019, 74, pp.30-33. ⟨10.1016/j.bcmd.2018.10.006⟩","raw_type":"info:eu-repo/semantics/article"},"sustainable_development_goals":[{"score":0.98580002784729,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":29,"referenced_works":["https://openalex.org/W9687913","https://openalex.org/W1971656058","https://openalex.org/W1998872310","https://openalex.org/W2002519587","https://openalex.org/W2025695531","https://openalex.org/W2027090078","https://openalex.org/W2035632934","https://openalex.org/W2038831113","https://openalex.org/W2044346481","https://openalex.org/W2049159145","https://openalex.org/W2050264723","https://openalex.org/W2051978340","https://openalex.org/W2071459635","https://openalex.org/W2083395503","https://openalex.org/W2090249930","https://openalex.org/W2101093867","https://openalex.org/W2104549677","https://openalex.org/W2111879337","https://openalex.org/W2116064842","https://openalex.org/W2127121874","https://openalex.org/W2146741372","https://openalex.org/W2150352214","https://openalex.org/W2154027211","https://openalex.org/W2170758920","https://openalex.org/W2187456300","https://openalex.org/W2239788015","https://openalex.org/W2256016639","https://openalex.org/W2511062841","https://openalex.org/W2761872170"],"related_works":["https://openalex.org/W2968606109","https://openalex.org/W4223573804","https://openalex.org/W4394761615","https://openalex.org/W975319039","https://openalex.org/W2970124285","https://openalex.org/W2161477255","https://openalex.org/W3049662043","https://openalex.org/W2150352214","https://openalex.org/W1900551245","https://openalex.org/W2049159145"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2018-10-26T00:00:00"}