{"id":"https://openalex.org/W4393974437","doi":"https://doi.org/10.1016/s0735-1097(24)05992-8","title":"A RARE CASE OF FABRY DISEASE (FD) IN A FEMALE WITH HYPERTROPHIC CARDIOMYOPATHY (HCM)","display_name":"A RARE CASE OF FABRY DISEASE (FD) IN A FEMALE WITH HYPERTROPHIC CARDIOMYOPATHY (HCM)","publication_year":2024,"publication_date":"2024-04-01","ids":{"openalex":"https://openalex.org/W4393974437","doi":"https://doi.org/10.1016/s0735-1097(24)05992-8"},"language":"en","primary_location":{"id":"doi:10.1016/s0735-1097(24)05992-8","doi":"https://doi.org/10.1016/s0735-1097(24)05992-8","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0735-1097(24)05992-8","pdf_url":null,"source":{"id":"https://openalex.org/S60865174","display_name":"Journal of the American College of Cardiology","issn_l":"0735-1097","issn":["0735-1097","1558-3597"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["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/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":"Journal of the American College of Cardiology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.1016/s0735-1097(24)05992-8","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5103127463","display_name":"Asmaa Ahmed","orcid":"https://orcid.org/0000-0003-0800-3372","observed_orcids":["https://orcid.org/0000-0003-0800-3372"]},"institutions":[{"id":"https://openalex.org/I4210111757","display_name":"Rochester General Hospital","ror":"https://ror.org/01jk6xr82","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210111757"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Asmaa Ahmed","raw_affiliation_strings":["Rochester General Hospital, Rochester, NY, USA","Sands-Constellation Heart Institute, Rochester, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rochester General Hospital, Rochester, NY, USA","institution_ids":["https://openalex.org/I4210111757"]},{"raw_affiliation_string":"Sands-Constellation Heart Institute, Rochester, NY, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053471637","display_name":"Nada Hafez","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210111757","display_name":"Rochester General Hospital","ror":"https://ror.org/01jk6xr82","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210111757"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nada Hafez","raw_affiliation_strings":["Rochester General Hospital, Rochester, NY, USA","Sands-Constellation Heart Institute, Rochester, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rochester General Hospital, Rochester, NY, USA","institution_ids":["https://openalex.org/I4210111757"]},{"raw_affiliation_string":"Sands-Constellation Heart Institute, Rochester, NY, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5095085327","display_name":"Lyudmila Kuchma","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210111757","display_name":"Rochester General Hospital","ror":"https://ror.org/01jk6xr82","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210111757"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lyudmila Kuchma","raw_affiliation_strings":["Rochester General Hospital, Rochester, NY, USA","Sands-Constellation Heart Institute, Rochester, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rochester General Hospital, Rochester, NY, USA","institution_ids":["https://openalex.org/I4210111757"]},{"raw_affiliation_string":"Sands-Constellation Heart Institute, Rochester, NY, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047540219","display_name":"Andrew Takla","orcid":"https://orcid.org/0009-0002-2375-7957","observed_orcids":["https://orcid.org/0009-0002-2375-7957"]},"institutions":[{"id":"https://openalex.org/I4210111757","display_name":"Rochester General Hospital","ror":"https://ror.org/01jk6xr82","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210111757"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew Takla","raw_affiliation_strings":["Rochester General Hospital, Rochester, NY, USA","Sands-Constellation Heart Institute, Rochester, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rochester General Hospital, Rochester, NY, USA","institution_ids":["https://openalex.org/I4210111757"]},{"raw_affiliation_string":"Sands-Constellation Heart Institute, Rochester, NY, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061516575","display_name":"Bipul Baibhav","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210111757","display_name":"Rochester General Hospital","ror":"https://ror.org/01jk6xr82","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210111757"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bipul Baibhav","raw_affiliation_strings":["Rochester General Hospital, Rochester, NY, USA","Sands-Constellation Heart Institute, Rochester, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rochester General Hospital, Rochester, NY, USA","institution_ids":["https://openalex.org/I4210111757"]},{"raw_affiliation_string":"Sands-Constellation Heart Institute, Rochester, NY, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050832292","display_name":"Mohamed Salah Mohamed","orcid":"https://orcid.org/0000-0002-2087-0877","observed_orcids":["https://orcid.org/0000-0002-2087-0877"]},"institutions":[{"id":"https://openalex.org/I4210111757","display_name":"Rochester General Hospital","ror":"https://ror.org/01jk6xr82","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210111757"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mohamed Salah Mohamed","raw_affiliation_strings":["Rochester General Hospital, Rochester, NY, USA","Sands-Constellation Heart Institute, Rochester, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rochester General Hospital, Rochester, NY, USA","institution_ids":["https://openalex.org/I4210111757"]},{"raw_affiliation_string":"Sands-Constellation Heart Institute, Rochester, NY, USA","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5041902525","display_name":"Omofolarin Babayale","orcid":"https://orcid.org/0000-0003-3975-1103","observed_orcids":["https://orcid.org/0000-0003-3975-1103"]},"institutions":[{"id":"https://openalex.org/I4210111757","display_name":"Rochester General Hospital","ror":"https://ror.org/01jk6xr82","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210111757"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Omofolarin Babayale","raw_affiliation_strings":["Rochester General Hospital, Rochester, NY, USA","Sands-Constellation Heart Institute, Rochester, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rochester General Hospital, Rochester, NY, USA","institution_ids":["https://openalex.org/I4210111757"]},{"raw_affiliation_string":"Sands-Constellation Heart Institute, Rochester, NY, USA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4210111757"],"apc_list":{"value":6825,"currency":"USD","value_usd":6825},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"83","issue":"13","first_page":"4002","last_page":"4002"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9810000061988831,"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"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9810000061988831,"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"}},{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.013799999840557575,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular 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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0017000000225380063,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/fabry-disease","display_name":"Fabry disease","score":1.0},{"id":"https://openalex.org/keywords/hypertrophic-cardiomyopathy","display_name":"hypertrophic cardiomyopathy","score":0.9990000128746033},{"id":"https://openalex.org/keywords/female-patients","display_name":"female patients","score":0.7129999995231628},{"id":"https://openalex.org/keywords/rare-case","display_name":"rare case","score":0.5360000133514404},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.7699999809265137}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9762617349624634},{"id":"https://openalex.org/C2780185194","wikidata":"https://www.wikidata.org/wiki/Q1364270","display_name":"Hypertrophic cardiomyopathy","level":2,"score":0.9577006101608276},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.6739563941955566},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.6135436296463013},{"id":"https://openalex.org/C2777404818","wikidata":"https://www.wikidata.org/wiki/Q615645","display_name":"Fabry disease","level":3,"score":0.5906274914741516},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.47422003746032715},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3864681124687195},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.11798295378684998}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/s0735-1097(24)05992-8","doi":"https://doi.org/10.1016/s0735-1097(24)05992-8","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0735-1097(24)05992-8","pdf_url":null,"source":{"id":"https://openalex.org/S60865174","display_name":"Journal of the American College of Cardiology","issn_l":"0735-1097","issn":["0735-1097","1558-3597"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["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/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":"Journal of the American College of Cardiology","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1016/s0735-1097(24)05992-8","doi":"https://doi.org/10.1016/s0735-1097(24)05992-8","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0735-1097(24)05992-8","pdf_url":null,"source":{"id":"https://openalex.org/S60865174","display_name":"Journal of the American College of Cardiology","issn_l":"0735-1097","issn":["0735-1097","1558-3597"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["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/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":"Journal of the American College of Cardiology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4231513295","https://openalex.org/W2000138560","https://openalex.org/W6986606159","https://openalex.org/W4393974212","https://openalex.org/W4220849418","https://openalex.org/W4393974269","https://openalex.org/W4221078105","https://openalex.org/W4406827412","https://openalex.org/W2079316384","https://openalex.org/W2619807578"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2024-04-06T00:00:00"}
