{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T03:09:33Z","timestamp":1792292973487,"version":"4.4.0"},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T00:00:00Z","timestamp":1746748800000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008373","name":"Takeda Pharmaceutical Company","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008373","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004339","name":"Sanofi","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004339","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Gaucher disease (GD) is a rare autosomal\u2010recessive lysosomal disorder caused by glucocerebrosidase deficiency. In this study, we described the epidemiology of GD in France over more than three decades. The French GD registry (FGDR) includes all known patients with GD in France. We described patients' characteristics, and estimated the incidence, prevalence, and standardized mortality ratios of GD. We compared the evolution of diagnostic methods, diagnosis delays, and treatment over time, and assessed the incidence of bone events, malignancies, and Parkinson's disease. Between 1980 and 2024, 706 confirmed GD were included. In 2024, 447 patients were alive (413 type 1, 34 type 3). GD incidence was 0.21\/1\u2009000\u2009000 PY, and GD prevalence was 0.61 and 0.05\/100\u2009000 inhabitants for type 1 and 3, respectively. The standardized mortality ratio was 0.70 for type 1 GD and 16.23 for type 3 GD. Over time, we observed a decrease in the delay between first symptoms and diagnosis (5.4\u2009years before 2000; 0.8 after 2020;\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.001), with enzyme assays becoming the primary diagnostic method, a reduction in splenectomies, and a gradual increase in the use of substrate reduction therapy in type 1 GD. The incidences of bone events, malignancies, and Parkinson's disease were 23, 2.7, and 1.07 per 1000 person\u2010years, respectively. This study provides updated epidemiological data on GD in France, showing improvements in disease knowledge, faster and less invasive diagnoses, and reassuring outcomes for type 1 GD, with lower mortality and a relatively low incidence of malignancies and Parkinson's disease.\n                  <\/jats:p>","DOI":"10.1002\/jimd.70037","type":"journal-article","created":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T06:50:23Z","timestamp":1746773423000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades"],"prefix":"10.1002","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0866-3824","authenticated-orcid":false,"given":"Yann","family":"Nguyen","sequence":"first","affiliation":[{"name":"Service de M\u00e9decine Interne Centre de r\u00e9f\u00e9rence des maladies lysosomales, H\u00f4pital Beaujon, AP\u2010HP.Nord, Universit\u00e9 Paris Cit\u00e9  Clichy France"},{"name":"Centre de Recherche en Epid\u00e9miologie et Statistiques (CRESS), Unit\u00e9 Inserm 1153 Universit\u00e9 Paris Cit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maxime","family":"Beydon","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne Centre de r\u00e9f\u00e9rence des maladies lysosomales, H\u00f4pital Beaujon, AP\u2010HP.Nord, Universit\u00e9 Paris Cit\u00e9  Clichy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karima","family":"Yousfi","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne Centre de r\u00e9f\u00e9rence des maladies lysosomales, H\u00f4pital Beaujon, AP\u2010HP.Nord, Universit\u00e9 Paris Cit\u00e9  Clichy 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