{"id":"https://openalex.org/W4388734273","doi":"https://doi.org/10.3389/fendo.2023.1250203","title":"Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain","display_name":"Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain","publication_year":2023,"publication_date":"2023-11-16","ids":{"openalex":"https://openalex.org/W4388734273","doi":"https://doi.org/10.3389/fendo.2023.1250203","pmid":"https://pubmed.ncbi.nlm.nih.gov/38034001","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/10687442"},"language":"en","primary_location":{"id":"doi:10.3389/fendo.2023.1250203","doi":"https://doi.org/10.3389/fendo.2023.1250203","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fendo.2023.1250203","pdf_url":"https://www.frontiersin.org/articles/10.3389/fendo.2023.1250203/pdf?isPublishedV2=False","source":{"id":"https://openalex.org/S2597401208","display_name":"Frontiers in Endocrinology","issn_l":"1664-2392","issn":["1664-2392"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Endocrinology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.frontiersin.org/articles/10.3389/fendo.2023.1250203/pdf?isPublishedV2=False","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5059594106","display_name":"Ant\u00eda Fern\u00e1ndez\u2010Pombo","orcid":"https://orcid.org/0000-0002-1268-7538","observed_orcids":["https://orcid.org/0000-0002-1268-7538"]},"institutions":[{"id":"https://openalex.org/I200284239","display_name":"Universidade de Santiago de Compostela","ror":"https://ror.org/030eybx10","country_code":"ES","type":"education","lineage":["https://openalex.org/I200284239"]},{"id":"https://openalex.org/I4210096311","display_name":"Complejo Hospitalario Universitario de Santiago","ror":"https://ror.org/00mpdg388","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210096311"]},{"id":"https://openalex.org/I4210148771","display_name":"Instituto de Investigaci\u00f3n Sanitaria de Santiago","ror":"https://ror.org/05n7xcf53","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210148771"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Ant\u00eda Fern\u00e1ndez-Pombo","raw_affiliation_strings":["Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CiMUS, University of Santiago de Compostela, Santiago de Compostela, Spain","Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CiMUS, University of Santiago de Compostela, Santiago de Compostela, Spain","institution_ids":["https://openalex.org/I200284239","https://openalex.org/I4210148771"]},{"raw_affiliation_string":"Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, Spain","institution_ids":["https://openalex.org/I4210096311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059223267","display_name":"Sof\u00eda S\u00e1nchez\u2010Iglesias","orcid":"https://orcid.org/0000-0003-3887-0573","observed_orcids":["https://orcid.org/0000-0003-3887-0573"]},"institutions":[{"id":"https://openalex.org/I200284239","display_name":"Universidade de Santiago de Compostela","ror":"https://ror.org/030eybx10","country_code":"ES","type":"education","lineage":["https://openalex.org/I200284239"]},{"id":"https://openalex.org/I4210148771","display_name":"Instituto de Investigaci\u00f3n Sanitaria de Santiago","ror":"https://ror.org/05n7xcf53","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210148771"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Sof\u00eda S\u00e1nchez-Iglesias","raw_affiliation_strings":["Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CiMUS, University of Santiago de Compostela, Santiago de Compostela, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CiMUS, University of Santiago de Compostela, Santiago de Compostela, Spain","institution_ids":["https://openalex.org/I200284239","https://openalex.org/I4210148771"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081658587","display_name":"Ana I. Castro-Pais","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801724371","display_name":"Spanish Biomedical Research Centre in Physiopathology of Obesity and Nutrition","ror":"https://ror.org/02s65tk16","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2801724371"]},{"id":"https://openalex.org/I4210096311","display_name":"Complejo Hospitalario Universitario de Santiago","ror":"https://ror.org/00mpdg388","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210096311"]},{"id":"https://openalex.org/I4210115082","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red","ror":"https://ror.org/02g87qh62","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4210115082","https://openalex.org/I4387152914"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Ana I. Castro-Pais","raw_affiliation_strings":["CIBER Fisiopatolog\u00eda de la Obesidad y la Nutrici\u00f3n (CIBERobn), Madrid, Spain","Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CIBER Fisiopatolog\u00eda de la Obesidad y la Nutrici\u00f3n (CIBERobn), Madrid, Spain","institution_ids":["https://openalex.org/I2801724371","https://openalex.org/I4210115082"]},{"raw_affiliation_string":"Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, Spain","institution_ids":["https://openalex.org/I4210096311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083331444","display_name":"Mar\u00eda Jos\u00e9 Ginzo Villamayor","orcid":"https://orcid.org/0000-0001-6392-3812","observed_orcids":["https://orcid.org/0000-0001-6392-3812"]},"institutions":[{"id":"https://openalex.org/I200284239","display_name":"Universidade de Santiago de Compostela","ror":"https://ror.org/030eybx10","country_code":"ES","type":"education","lineage":["https://openalex.org/I200284239"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Maria Jos\u00e9 Ginzo-Villamayor","raw_affiliation_strings":["Department of Estat\u00edstica, An\u00e1lise Matem\u00e1tica e Optimizaci\u00f3n, University of Santiago de Compostela, Santiago de Compostela, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Estat\u00edstica, An\u00e1lise Matem\u00e1tica e Optimizaci\u00f3n, University of Santiago de Compostela, Santiago de Compostela, Spain","institution_ids":["https://openalex.org/I200284239"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050527024","display_name":"Silvia Cobelo-G\u00f3mez","orcid":"https://orcid.org/0000-0002-0941-626X","observed_orcids":["https://orcid.org/0000-0002-0941-626X"]},"institutions":[{"id":"https://openalex.org/I200284239","display_name":"Universidade de Santiago de Compostela","ror":"https://ror.org/030eybx10","country_code":"ES","type":"education","lineage":["https://openalex.org/I200284239"]},{"id":"https://openalex.org/I4210148771","display_name":"Instituto de Investigaci\u00f3n Sanitaria de Santiago","ror":"https://ror.org/05n7xcf53","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210148771"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Silvia Cobelo-G\u00f3mez","raw_affiliation_strings":["Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CiMUS, University of Santiago de Compostela, Santiago de Compostela, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CiMUS, University of Santiago de Compostela, Santiago de Compostela, Spain","institution_ids":["https://openalex.org/I200284239","https://openalex.org/I4210148771"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053752628","display_name":"Teresa Prado\u2010Mora\u00f1a","orcid":"https://orcid.org/0000-0003-2588-7608","observed_orcids":["https://orcid.org/0000-0003-2588-7608"]},"institutions":[{"id":"https://openalex.org/I200284239","display_name":"Universidade de Santiago de Compostela","ror":"https://ror.org/030eybx10","country_code":"ES","type":"education","lineage":["https://openalex.org/I200284239"]},{"id":"https://openalex.org/I4210096311","display_name":"Complejo Hospitalario Universitario de Santiago","ror":"https://ror.org/00mpdg388","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210096311"]},{"id":"https://openalex.org/I4210148771","display_name":"Instituto de Investigaci\u00f3n Sanitaria de Santiago","ror":"https://ror.org/05n7xcf53","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210148771"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Teresa Prado-Mora\u00f1a","raw_affiliation_strings":["Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CiMUS, University of Santiago de Compostela, Santiago de Compostela, Spain","Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CiMUS, University of Santiago de Compostela, Santiago de Compostela, Spain","institution_ids":["https://openalex.org/I200284239","https://openalex.org/I4210148771"]},{"raw_affiliation_string":"Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, Spain","institution_ids":["https://openalex.org/I4210096311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060031641","display_name":"Everardo Josu\u00e9 D\u00edaz\u2010L\u00f3pez","orcid":"https://orcid.org/0000-0002-5202-638X","observed_orcids":["https://orcid.org/0000-0002-5202-638X"]},"institutions":[{"id":"https://openalex.org/I200284239","display_name":"Universidade de Santiago de Compostela","ror":"https://ror.org/030eybx10","country_code":"ES","type":"education","lineage":["https://openalex.org/I200284239"]},{"id":"https://openalex.org/I4210096311","display_name":"Complejo Hospitalario Universitario de Santiago","ror":"https://ror.org/00mpdg388","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210096311"]},{"id":"https://openalex.org/I4210148771","display_name":"Instituto de Investigaci\u00f3n Sanitaria de Santiago","ror":"https://ror.org/05n7xcf53","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210148771"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Everardo Josu\u00e9 D\u00edaz-L\u00f3pez","raw_affiliation_strings":["Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CiMUS, University of Santiago de Compostela, Santiago de Compostela, Spain","Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CiMUS, University of Santiago de Compostela, Santiago de Compostela, Spain","institution_ids":["https://openalex.org/I200284239","https://openalex.org/I4210148771"]},{"raw_affiliation_string":"Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, Spain","institution_ids":["https://openalex.org/I4210096311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032467307","display_name":"Felipe F. Casanueva","orcid":"https://orcid.org/0000-0002-9052-8161","observed_orcids":["https://orcid.org/0000-0002-9052-8161"]},"institutions":[{"id":"https://openalex.org/I2801724371","display_name":"Spanish Biomedical Research Centre in Physiopathology of Obesity and Nutrition","ror":"https://ror.org/02s65tk16","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2801724371"]},{"id":"https://openalex.org/I4210115082","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red","ror":"https://ror.org/02g87qh62","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4210115082","https://openalex.org/I4387152914"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Felipe F. Casanueva","raw_affiliation_strings":["CIBER Fisiopatolog\u00eda de la Obesidad y la Nutrici\u00f3n (CIBERobn), Madrid, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CIBER Fisiopatolog\u00eda de la Obesidad y la Nutrici\u00f3n (CIBERobn), Madrid, Spain","institution_ids":["https://openalex.org/I2801724371","https://openalex.org/I4210115082"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014993994","display_name":"Lourdes Loidi","orcid":"https://orcid.org/0009-0009-6684-8315","observed_orcids":["https://orcid.org/0009-0009-6684-8315"]},"institutions":[{"id":"https://openalex.org/I4210158352","display_name":"Servicio Gallego de Salud","ror":"https://ror.org/0591s4t67","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210158352"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Lourdes Loidi","raw_affiliation_strings":["Galician Public Foundation for Genomic Medicine (SERGAS-Xunta de Galicia), Santiago de Compostela, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Galician Public Foundation for Genomic Medicine (SERGAS-Xunta de Galicia), Santiago de Compostela, Spain","institution_ids":["https://openalex.org/I4210158352"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5017309876","display_name":"David Ara\u00fajo\u2010Vilar","orcid":"https://orcid.org/0000-0003-2852-7851","observed_orcids":["https://orcid.org/0000-0003-2852-7851"]},"institutions":[{"id":"https://openalex.org/I200284239","display_name":"Universidade de Santiago de Compostela","ror":"https://ror.org/030eybx10","country_code":"ES","type":"education","lineage":["https://openalex.org/I200284239"]},{"id":"https://openalex.org/I4210096311","display_name":"Complejo Hospitalario Universitario de Santiago","ror":"https://ror.org/00mpdg388","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210096311"]},{"id":"https://openalex.org/I4210148771","display_name":"Instituto de Investigaci\u00f3n Sanitaria de Santiago","ror":"https://ror.org/05n7xcf53","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210148771"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"David Ara\u00fajo-Vilar","raw_affiliation_strings":["Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CiMUS, University of Santiago de Compostela, Santiago de Compostela, Spain","Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CiMUS, University of Santiago de Compostela, Santiago de Compostela, Spain","institution_ids":["https://openalex.org/I200284239","https://openalex.org/I4210148771"]},{"raw_affiliation_string":"Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, Spain","institution_ids":["https://openalex.org/I4210096311"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5017309876"],"corresponding_institution_ids":["https://openalex.org/I200284239","https://openalex.org/I4210096311","https://openalex.org/I4210148771"],"apc_list":{"value":3295,"currency":"USD","value_usd":3295},"apc_paid":{"value":3295,"currency":"USD","value_usd":3295},"fwci":4.5053,"has_fulltext":true,"cited_by_count":25,"citation_normalized_percentile":{"value":0.95935282,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":95,"max":99},"biblio":{"volume":"14","issue":null,"first_page":"1250203","last_page":"1250203"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":0.5717999935150146,"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"}},"topics":[{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":0.5717999935150146,"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/T11844","display_name":"Lipid metabolism and biosynthesis","score":0.05689999833703041,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.02410000003874302,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/lipodystrophy","display_name":"lipodystrophy","score":0.9179999828338623},{"id":"https://openalex.org/keywords/partial-lipodystrophy","display_name":"partial lipodystrophy","score":0.9990000128746033},{"id":"https://openalex.org/keywords/comorbidity","display_name":"comorbidities","score":0.828000009059906},{"id":"https://openalex.org/keywords/natural-history-disease","display_name":"natural history (disease)","score":0.9399999976158142},{"id":"https://openalex.org/keywords/prevalence","display_name":"prevalence","score":0.7149999737739563},{"id":"https://openalex.org/keywords/delayed-diagnosis","display_name":"delayed diagnosis","score":0.6209999918937683},{"id":"https://openalex.org/keywords/differential-diagnosis","display_name":"differential diagnosis","score":0.6990000009536743},{"id":"https://openalex.org/keywords/metabolic-abnormalities","display_name":"metabolic abnormalities","score":0.7850000262260437},{"id":"https://openalex.org/keywords/lipid-profile","display_name":"lipid profile","score":0.9860000014305115},{"id":"https://openalex.org/keywords/body-composition","display_name":"body composition","score":0.9620000123977661},{"id":"https://openalex.org/keywords/mortality","display_name":"mortality","score":0.6449999809265137},{"id":"https://openalex.org/keywords/spain","display_name":"Spain","score":0.36800000071525574}],"concepts":[{"id":"https://openalex.org/C2780941825","wikidata":"https://www.wikidata.org/wiki/Q1538213","display_name":"Lipodystrophy","level":5,"score":0.9299591779708862},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7287628054618835},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.592268705368042},{"id":"https://openalex.org/C163276114","wikidata":"https://www.wikidata.org/wiki/Q484591","display_name":"Natural history","level":2,"score":0.5568196773529053},{"id":"https://openalex.org/C61427482","wikidata":"https://www.wikidata.org/wiki/Q6656244","display_name":"Anthropometry","level":2,"score":0.5295501947402954},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2431257665157318},{"id":"https://openalex.org/C3013748606","wikidata":"https://www.wikidata.org/wiki/Q15787","display_name":"Human immunodeficiency virus (HIV)","level":2,"score":0.06514880061149597},{"id":"https://openalex.org/C2993143319","wikidata":"https://www.wikidata.org/wiki/Q583050","display_name":"Antiretroviral therapy","level":4,"score":0.05038246512413025},{"id":"https://openalex.org/C512399662","wikidata":"https://www.wikidata.org/wiki/Q3505712","display_name":"Family medicine","level":1,"score":0.0},{"id":"https://openalex.org/C142462285","wikidata":"https://www.wikidata.org/wiki/Q2528140","display_name":"Viral load","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008060","descriptor_name":"Lipodystrophy","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D008060","descriptor_name":"Lipodystrophy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008060","descriptor_name":"Lipodystrophy","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D011446","descriptor_name":"Prospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013030","descriptor_name":"Spain","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D052497","descriptor_name":"Lipodystrophy, Congenital Generalized","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D052497","descriptor_name":"Lipodystrophy, Congenital Generalized","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true}],"locations_count":7,"locations":[{"id":"doi:10.3389/fendo.2023.1250203","doi":"https://doi.org/10.3389/fendo.2023.1250203","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fendo.2023.1250203","pdf_url":"https://www.frontiersin.org/articles/10.3389/fendo.2023.1250203/pdf?isPublishedV2=False","source":{"id":"https://openalex.org/S2597401208","display_name":"Frontiers in Endocrinology","issn_l":"1664-2392","issn":["1664-2392"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Endocrinology","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:10687442","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10687442","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10687442/pdf/fendo-14-1250203.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Front Endocrinol (Lausanne)","raw_type":"Text"},{"id":"pmid:38034001","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38034001","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":"Frontiers in endocrinology","raw_type":"Journal Article"},{"id":"pmh:oai:minerva.usc.es:10347/32613","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10347/32613","pdf_url":"https://minerva.usc.es/bitstreams/90a19515-97c9-43c5-8330-ad4d0ff0f9f2/download","source":{"id":"https://openalex.org/S4306400376","display_name":"Repositorio institucional da Universidade de Santiago de Compostela (University of Santiago de Compostela)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I200284239","host_organization_name":"Universidade de Santiago de Compostela","host_organization_lineage":["https://openalex.org/I200284239"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"journal article"},{"id":"pmh:oai:runa.sergas.gal:20.500.11940/21770","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/20.500.11940/21770","pdf_url":"https://runa.sergas.gal/xmlui/bitstream/20.500.11940/21770/1/1992.pdf","source":{"id":"https://openalex.org/S4306402506","display_name":"RUNA. Repositorio Institucional del Sergas (Servicio Gallego de Salud (SERGAS))","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210158352","host_organization_name":"Servicio Gallego de Salud","host_organization_lineage":["https://openalex.org/I4210158352"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:8bee3dd1adf64e52944b759c400a14de","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/8bee3dd1adf64e52944b759c400a14de","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Frontiers in Endocrinology, Vol 14 (2023)","raw_type":"article"},{"id":"pmh:oai:hispana.mcu.es:58717299","doi":null,"is_oa":true,"landing_page_url":"https://hispana.mcu.es/es/registros/registro.do?tipoRegistro=MTD&idBib=58717299","pdf_url":null,"source":{"id":"https://openalex.org/S4377196108","display_name":"Hispana","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"journal article"}],"best_oa_location":{"id":"doi:10.3389/fendo.2023.1250203","doi":"https://doi.org/10.3389/fendo.2023.1250203","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fendo.2023.1250203","pdf_url":"https://www.frontiersin.org/articles/10.3389/fendo.2023.1250203/pdf?isPublishedV2=False","source":{"id":"https://openalex.org/S2597401208","display_name":"Frontiers in Endocrinology","issn_l":"1664-2392","issn":["1664-2392"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Endocrinology","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/G4951573307","display_name":"Medicina personalizada para las enfermedades raras: diagn\u00f3stico por biometr\u00eda e inteligencia artificial y modificaciones en las marcas epigen\u00e9ticas en las lipodistrofias infrecuentes.","funder_award_id":"PI22/00514","funder_id":"https://openalex.org/F4320334923","funder_display_name":"Instituto de Salud Carlos III"},{"id":"https://openalex.org/G5296241144","display_name":null,"funder_award_id":"ED431B 2020/37","funder_id":"https://openalex.org/F4320326655","funder_display_name":"Xunta de Galicia"},{"id":"https://openalex.org/G6258374248","display_name":null,"funder_award_id":"ED431B","funder_id":"https://openalex.org/F4320326655","funder_display_name":"Xunta de Galicia"}],"funders":[{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320326655","display_name":"Xunta de Galicia","ror":"https://ror.org/0181xnw06"},{"id":"https://openalex.org/F4320334923","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4388734273.pdf","grobid_xml":"https://content.openalex.org/works/W4388734273.grobid-xml"},"referenced_works_count":56,"referenced_works":["https://openalex.org/W1971658872","https://openalex.org/W1977379410","https://openalex.org/W1980719167","https://openalex.org/W1984067141","https://openalex.org/W2009330135","https://openalex.org/W2027542164","https://openalex.org/W2061878754","https://openalex.org/W2062057636","https://openalex.org/W2066961578","https://openalex.org/W2086549112","https://openalex.org/W2107955800","https://openalex.org/W2109887279","https://openalex.org/W2124276277","https://openalex.org/W2132205533","https://openalex.org/W2154029700","https://openalex.org/W2159220871","https://openalex.org/W2166633644","https://openalex.org/W2308085552","https://openalex.org/W2346774190","https://openalex.org/W2409686682","https://openalex.org/W2495256428","https://openalex.org/W2528176296","https://openalex.org/W2567263330","https://openalex.org/W2588240711","https://openalex.org/W2594193411","https://openalex.org/W2608084845","https://openalex.org/W2620406790","https://openalex.org/W2744199900","https://openalex.org/W2754681949","https://openalex.org/W2794302102","https://openalex.org/W2797973053","https://openalex.org/W2802787768","https://openalex.org/W2807439722","https://openalex.org/W2895669230","https://openalex.org/W2907006529","https://openalex.org/W2942031782","https://openalex.org/W2944300826","https://openalex.org/W2947558881","https://openalex.org/W2958222855","https://openalex.org/W2964737681","https://openalex.org/W2995391363","https://openalex.org/W3004981576","https://openalex.org/W3010642800","https://openalex.org/W3021717459","https://openalex.org/W3044853938","https://openalex.org/W3124131063","https://openalex.org/W3144736049","https://openalex.org/W3186917816","https://openalex.org/W4200148796","https://openalex.org/W4200289220","https://openalex.org/W4211034139","https://openalex.org/W4249944699","https://openalex.org/W4286434226","https://openalex.org/W4289550223","https://openalex.org/W4304206949","https://openalex.org/W4378470858"],"related_works":["https://openalex.org/W7067703877","https://openalex.org/W4415686572","https://openalex.org/W7171534696","https://openalex.org/W7120702079","https://openalex.org/W7129209330","https://openalex.org/W2995391363","https://openalex.org/W1992041676","https://openalex.org/W4401745323","https://openalex.org/W2958222855","https://openalex.org/W4416502647"],"abstract_inverted_index":{"The":[0,15,87,101],"rarity":[1],"of":[2,17,28,43,69,90,103,148,195],"lipodystrophies":[3,92],"implies":[4],"that":[5,132],"they":[6],"are":[7,128],"not":[8],"well-known,":[9],"leading":[10],"to":[11,21,35,37,139,157,175],"delays":[12],"in":[13,33,61,93,108,114,120],"diagnosis/misdiagnosis.":[14],"aim":[16],"this":[18],"study":[19],"was":[20,98,177],"assess":[22],"the":[23,118,145,203],"natural":[24],"course":[25],"and":[26,30,52,74,81,111,164],"comorbidities":[27],"generalised":[29,55,109,153,187],"partial":[31,50,115],"lipodystrophy":[32,51,110,154],"Spain":[34],"contribute":[36],"their":[38,159],"understanding.":[39],"Thus,":[40],"a":[41,62,66,165],"total":[42],"140":[44],"patients":[45,185],"were":[46,59,78,84,155],"evaluated":[47],"(77.1%":[48],"with":[49,54,65,117,152,186],"22.9%":[53],"lipodystrophy).":[56],"Clinical":[57],"data":[58],"collected":[60],"longitudinal":[63],"setting":[64],"median":[67],"follow-up":[68],"4.7":[70],"(0.5-17.6)":[71],"years.":[72],"Anthropometry":[73],"body":[75],"composition":[76],"studies":[77,200],"carried":[79],"out":[80],"analytical":[82],"parameters":[83],"also":[85,170],"recorded.":[86],"estimated":[88],"prevalence":[89],"all":[91],"Spain,":[94],"excluding":[95],"K\u00f6bberling":[96],"syndrome,":[97],"2.78":[99],"cases/million.":[100],"onset":[102],"phenotype":[104],"occurred":[105],"during":[106,112],"childhood":[107],"adolescence-adulthood":[113],"lipodystrophy,":[116],"delay":[119],"diagnosis":[121,147],"being":[122,182],"considerable":[123],"for":[124,197],"both":[125],"cohorts.":[126],"There":[127],"specific":[129],"clinical":[130],"findings":[131],"should":[133],"be":[134],"highlighted":[135],"as":[136,202],"useful":[137],"features":[138],"take":[140],"into":[141],"account":[142],"when":[143],"making":[144],"differential":[146],"these":[149],"disorders.":[150],"Patients":[151],"found":[156],"develop":[158],"first":[160],"metabolic":[161],"abnormalities":[162],"sooner":[163],"different":[166],"lipid":[167],"profile":[168],"has":[169],"been":[171],"observed.":[172],"Mean":[173],"time":[174],"death":[176],"83.8":[178],"\u00b1":[179],"2.5":[180],"years,":[181],"shorter":[183],"among":[184],"lipodystrophy.":[188],"These":[189],"results":[190],"provide":[191],"an":[192],"initial":[193],"point":[194],"comparison":[196],"ongoing":[198],"prospective":[199],"such":[201],"ECLip":[204],"Registry":[205],"study.":[206]},"counts_by_year":[{"year":2026,"cited_by_count":9},{"year":2025,"cited_by_count":13},{"year":2024,"cited_by_count":3}],"updated_date":"2026-11-11T12:16:26.678958","created_date":"2023-11-17T00:00:00"}