{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T03:01:58Z","timestamp":1790218918428,"version":"4.1.0"},"reference-count":16,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,3,31]],"date-time":"2025-03-31T00:00:00Z","timestamp":1743379200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009647","name":"Ministry of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009647","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007560","name":"Chiesi Farmaceutici SpA","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007560","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Annales d'Endocrinologie"],"published-print":{"date-parts":[[2025,7]]},"DOI":"10.1016\/j.ando.2025.101730","type":"journal-article","created":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T20:07:20Z","timestamp":1743538040000},"page":"101730","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Lipodystrophy and severe insulin resistance syndrome: Epidemiological data from a French national rare diseases registry"],"prefix":"10.1016","volume":"86","author":[{"given":"Marie-Christine","family":"Vantyghem","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estelle","family":"Nob\u00e9court","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Vatier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Bismuth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e9mence","family":"Deshuille","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nabila","family":"Elarouci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Sophie","family":"Jannot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Delemer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Vigouroux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ando.2025.101730_bib0085","doi-asserted-by":"crossref","first-page":"4500","DOI":"10.1210\/jc.2016-2466","article-title":"The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline","volume":"101","author":"Brown","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2025.101730_bib0090","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1093\/jamia\/ocab237","article-title":"BNDMR infrastructure team. The ongoing French BaMaRa-BNDMR cohort: implementation and deployment of a nationwide information system on rare disease","volume":"29","author":"Jannot","year":"2022","journal-title":"J Am Med Inform Assoc"},{"key":"10.1016\/j.ando.2025.101730_bib0095","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1530\/EJE-21-0282","article-title":"A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies","volume":"185","author":"Treiber","year":"2021","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.ando.2025.101730_bib0100","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1186\/s13023-024-03173-2","article-title":"Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center","volume":"19","author":"Donadille","year":"2024","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ando.2025.101730_bib0105","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1093\/ejendo\/lvad169","article-title":"Patients\u2019 perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy","volume":"190","author":"Mosbah","year":"2024","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.ando.2025.101730_bib0110","first-page":"dgae837","article-title":"Health-related quality of life, social and psychological well-being of 109 adult patients with genetic lipodystrophy","author":"Mosbah","year":"2024","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2025.101730_bib0115","doi-asserted-by":"crossref","first-page":"734601","DOI":"10.3389\/fphar.2021.734601","article-title":"An objective approach to identify priority rare diseases for the development of solutions reducing the diagnostic delay based on french data","volume":"12","author":"Chazal","year":"2021","journal-title":"Front Pharmacol"},{"key":"10.1016\/j.ando.2025.101730_bib0120","doi-asserted-by":"crossref","first-page":"375","DOI":"10.2147\/DMSO.S130810","article-title":"Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges","volume":"10","author":"Chiquette","year":"2017","journal-title":"Diabetes Metab Syndr Obes"},{"key":"10.1016\/j.ando.2025.101730_bib0125","doi-asserted-by":"crossref","first-page":"1250203","DOI":"10.3389\/fendo.2023.1250203","article-title":"Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain","volume":"14","author":"Fernandez-Pombo","year":"2023","journal-title":"Front Endocrinol (Lausanne)"},{"key":"10.1016\/j.ando.2025.101730_bib0130","doi-asserted-by":"crossref","first-page":"2759","DOI":"10.1210\/jc.2016-1005","article-title":"Natural history of congenital generalized lipodystrophy: a nationwide study from Turkey","volume":"101","author":"Akinci","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2025.101730_bib0135","doi-asserted-by":"crossref","first-page":"249","DOI":"10.2337\/db19-0447","article-title":"Clinical and molecular prevalence of lipodystrophy in an unascertained large clinical care cohort","volume":"69","author":"Gonzaga-Jauregui","year":"2020","journal-title":"Diabetes"},{"key":"10.1016\/j.ando.2025.101730_bib0140","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.2337\/dbi24-0018","article-title":"Lipodystrophy prevalence, \u201cLipodystrophy-Like Phenotypes\u201d and diagnostic challenges","volume":"73","author":"Akinci","year":"2024","journal-title":"Diabetes"},{"key":"10.1016\/j.ando.2025.101730_bib0145","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1186\/s13023-023-02725-2","article-title":"Overview of patients\u2019 cohorts in the French National rare disease registry","volume":"18","author":"Pichon","year":"2023","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ando.2025.101730_bib0150","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1136\/amiajnl-2014-002794","article-title":"A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research","volume":"22","author":"Choquet","year":"2015","journal-title":"J Am Med Inform Assoc"},{"key":"10.1016\/j.ando.2025.101730_bib0155","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1186\/s13023-021-01957-4","article-title":"10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France","volume":"16","author":"Messiaen","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ando.2025.101730_bib0160","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/s13023-020-1295-y","article-title":"European lipodystrophy registry: background and structure","volume":"15","author":"Von Schnurbein","year":"2020","journal-title":"Orphanet J Rare Dis"}],"container-title":["Annales d'Endocrinologie"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003426625000496?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003426625000496?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T12:25:32Z","timestamp":1762086332000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0003426625000496"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["S0003426625000496"],"URL":"https:\/\/doi.org\/10.1016\/j.ando.2025.101730","relation":{},"ISSN":["0003-4266"],"issn-type":[{"value":"0003-4266","type":"print"}],"subject":[],"published":{"date-parts":[[2025,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Lipodystrophy and severe insulin resistance syndrome: Epidemiological data from a French national rare diseases registry","name":"articletitle","label":"Article Title"},{"value":"Annales d'Endocrinologie","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ando.2025.101730","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"101730"}}