{"id":"https://openalex.org/W1972805683","doi":"https://doi.org/10.1016/s0735-1097(86)80238-8","title":"Echocardiographic abnormalities and disease severity in Fabry's disease","display_name":"Echocardiographic abnormalities and disease severity in Fabry's disease","publication_year":1986,"publication_date":"1986-05-01","ids":{"openalex":"https://openalex.org/W1972805683","doi":"https://doi.org/10.1016/s0735-1097(86)80238-8","mag":"1972805683","pmid":"https://pubmed.ncbi.nlm.nih.gov/3082958"},"language":"en","primary_location":{"id":"doi:10.1016/s0735-1097(86)80238-8","doi":"https://doi.org/10.1016/s0735-1097(86)80238-8","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0735-1097(86)80238-8","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","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.1016/s0735-1097(86)80238-8","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5042780321","display_name":"Martin E. Goldman","orcid":"https://orcid.org/0009-0008-2649-2409","observed_orcids":["https://orcid.org/0009-0008-2649-2409"]},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Martin E. Goldman","raw_affiliation_strings":["Division of Cardiology, Department of Medicine and Division of Medical Genetics, Department of Pediatrics, Mount Sinai School of Medicine, New York, New York"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Cardiology, Department of Medicine and Division of Medical Genetics, Department of Pediatrics, Mount Sinai School of Medicine, New York, New York","institution_ids":["https://openalex.org/I98704320"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025258686","display_name":"Richard M. Cantor","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Richard Cantor","raw_affiliation_strings":["Division of Cardiology, Department of Medicine and Division of Medical Genetics, Department of Pediatrics, Mount Sinai School of Medicine, New York, New York"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Cardiology, Department of Medicine and Division of Medical Genetics, Department of Pediatrics, Mount Sinai School of Medicine, New York, New York","institution_ids":["https://openalex.org/I98704320"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113455162","display_name":"Marcia Schwartz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Marcia F. Schwartz","raw_affiliation_strings":["Division of Cardiology, Department of Medicine and Division of Medical Genetics, Department of Pediatrics, Mount Sinai School of Medicine, New York, New York"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Cardiology, Department of Medicine and Division of Medical Genetics, Department of Pediatrics, Mount Sinai School of Medicine, New York, New York","institution_ids":["https://openalex.org/I98704320"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003608852","display_name":"Maureen Baker","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Maureen Baker","raw_affiliation_strings":["Division of Cardiology, Department of Medicine and Division of Medical Genetics, Department of Pediatrics, Mount Sinai School of Medicine, New York, New York"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Cardiology, Department of Medicine and Division of Medical Genetics, Department of Pediatrics, Mount Sinai School of Medicine, New York, New York","institution_ids":["https://openalex.org/I98704320"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5090900773","display_name":"Robert J. Desnick","orcid":"https://orcid.org/0000-0001-5501-2971","observed_orcids":["https://orcid.org/0000-0001-5501-2971"]},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Robert J. Desnick","raw_affiliation_strings":["Division of Cardiology, Department of Medicine and Division of Medical Genetics, Department of Pediatrics, Mount Sinai School of Medicine, New York, New York"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Cardiology, Department of Medicine and Division of Medical Genetics, Department of Pediatrics, Mount Sinai School of Medicine, New York, New York","institution_ids":["https://openalex.org/I98704320"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5042780321"],"corresponding_institution_ids":["https://openalex.org/I98704320"],"apc_list":{"value":7166,"currency":"USD","value_usd":7166},"apc_paid":null,"fwci":1.0872,"has_fulltext":false,"cited_by_count":115,"citation_normalized_percentile":{"value":0.73684211,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"7","issue":"5","first_page":"1157","last_page":"1161"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":1.0,"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"}},{"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/T11027","display_name":"Metabolism and Genetic Disorders","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical 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":0.9580000042915344},{"id":"https://openalex.org/keywords/cardiac-involvement","display_name":"cardiac involvement","score":0.7760000228881836},{"id":"https://openalex.org/keywords/left-ventricular-mass","display_name":"left ventricular mass","score":0.8410000205039978},{"id":"https://openalex.org/keywords/aortic-root-dilation","display_name":"aortic root dilatation","score":0.7049999833106995},{"id":"https://openalex.org/keywords/interventricular-septal-thickness","display_name":"interventricular septum thickness","score":0.8769999742507935},{"id":"https://openalex.org/keywords/mitral-valve-prolapse","display_name":"mitral valve prolapse","score":0.8730000257492065},{"id":"https://openalex.org/keywords/disease-severity","display_name":"disease severity","score":0.8569999933242798},{"id":"https://openalex.org/keywords/hemizygotes","display_name":"hemizygotes","score":0.7049999833106995},{"id":"https://openalex.org/keywords/heterozygotes","display_name":"heterozygotes","score":0.9850000143051147},{"id":"https://openalex.org/keywords/disease-progression","display_name":"disease progression","score":0.871999979019165}],"concepts":[{"id":"https://openalex.org/C2777404818","wikidata":"https://www.wikidata.org/wiki/Q615645","display_name":"Fabry disease","level":3,"score":0.9048058986663818},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8891969919204712},{"id":"https://openalex.org/C2909637497","wikidata":"https://www.wikidata.org/wiki/Q615645","display_name":"Fabry's disease","level":4,"score":0.792487621307373},{"id":"https://openalex.org/C2779740085","wikidata":"https://www.wikidata.org/wiki/Q2397680","display_name":"Interventricular septum","level":3,"score":0.703537106513977},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6394981741905212},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.5802191495895386},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.5784690976142883},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5577867031097412},{"id":"https://openalex.org/C2777687718","wikidata":"https://www.wikidata.org/wiki/Q410539","display_name":"Globotriaosylceramide","level":4,"score":0.5472570657730103},{"id":"https://openalex.org/C2781030672","wikidata":"https://www.wikidata.org/wiki/Q735652","display_name":"Mitral valve prolapse","level":3,"score":0.54172682762146},{"id":"https://openalex.org/C2779969927","wikidata":"https://www.wikidata.org/wiki/Q916766","display_name":"Enzyme replacement therapy","level":3,"score":0.4929165840148926},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4023295044898987},{"id":"https://openalex.org/C2777543888","wikidata":"https://www.wikidata.org/wiki/Q369939","display_name":"Mitral valve","level":2,"score":0.39358532428741455},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.15192580223083496},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.0},{"id":"https://openalex.org/C2778921608","wikidata":"https://www.wikidata.org/wiki/Q2002035","display_name":"Ventricle","level":2,"score":0.0},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000795","descriptor_name":"Fabry Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D000795","descriptor_name":"Fabry Disease","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D004452","descriptor_name":"Echocardiography","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":"D006352","descriptor_name":"Heart Ventricles","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"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":"D008943","descriptor_name":"Mitral Valve","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/s0735-1097(86)80238-8","doi":"https://doi.org/10.1016/s0735-1097(86)80238-8","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0735-1097(86)80238-8","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"},{"id":"pmid:3082958","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3082958","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":"Journal of the American College of Cardiology","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1016/s0735-1097(86)80238-8","doi":"https://doi.org/10.1016/s0735-1097(86)80238-8","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0735-1097(86)80238-8","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":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G5979688775","display_name":"Mental Retardation and Developmental Disabilities","funder_award_id":"T32HD007105","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G620129359","display_name":"FABRY DISEASE:  MOLECULAR AND MODEL THERAPEUTIC STUDIES","funder_award_id":"5r01am034045-02","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":14,"referenced_works":["https://openalex.org/W1578963873","https://openalex.org/W1580954358","https://openalex.org/W1976396350","https://openalex.org/W1982478574","https://openalex.org/W1982888313","https://openalex.org/W1995934832","https://openalex.org/W1999137566","https://openalex.org/W2000365818","https://openalex.org/W2023251415","https://openalex.org/W2031322169","https://openalex.org/W2062400470","https://openalex.org/W2096073058","https://openalex.org/W2394580191","https://openalex.org/W4234405687"],"related_works":["https://openalex.org/W2062400470","https://openalex.org/W2029848612","https://openalex.org/W1517680595","https://openalex.org/W2115423733","https://openalex.org/W3011079332","https://openalex.org/W1986092877","https://openalex.org/W2123552917","https://openalex.org/W2668788811","https://openalex.org/W4246358810","https://openalex.org/W2095502068"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}