{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,2]],"date-time":"2026-03-02T12:43:18Z","timestamp":1772455398749,"version":"3.50.1"},"reference-count":34,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T00:00:00Z","timestamp":1761523200000},"content-version":"vor","delay-in-days":26,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Objectives<\/jats:title>\n                    <jats:p>Mortality in Late\u2010Onset Pompe Disease (LOPD) has been associated with the rapid progression of respiratory and motor impairment. However, an in\u2010depth approach to the exact causes of death in these patients is still lacking.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In this retrospective cohort study, we analyzed the cause of death and the comorbidities of all deceased patients from the French Late\u2010Onset Pompe Disease registry.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      By the time of the last extraction, 60 patients diagnosed with LOPD and monitored were registered as deceased in the French national registry, out of a total of 260 patients included. The median age of death was 70.5\u2009years, while the median age of diagnosis was 58\u2009years. The causes of death were divided into disease\u2010related, accounting for 46.6% of deaths, and non\u2010disease\u2010related, comprising 28.3% of total deaths. Fifteen patients (25%) died of an unknown cause. The most frequent etiology of disease\u2010related death was respiratory failure (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200914), while for the non\u2010disease\u2010related group, malignant neoplasm was the most common (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20098). Patients in the non\u2010disease\u2010related death group had significantly higher forced vital capacity (FVC) values compared to those in the disease\u2010related death group (54.7% vs. 38%). Treatment\u2010wise, the median period elapsed from diagnosis to ERT introduction was higher in the disease\u2010related group.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>This is the first study to focus on the specific causes of death of LOPD patients. The majority of the LOPD deaths in the French registry were attributed to respiratory failure and malignant neoplasms.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.70394","type":"journal-article","created":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T07:19:03Z","timestamp":1761549543000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Causes of Death and Comorbidities in Adult Patients With Late\u2010Onset Pompe Disease: A French Pompe Registry Retrospective Study"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3241-2782","authenticated-orcid":false,"given":"Diana Maria","family":"Chitimus","sequence":"first","affiliation":[{"name":"Raymond Poincar\u00e9 University Hospital, APHP  Garches France"},{"name":"INSERM U 1179, Handicap Neuromusculaire UVSQ Paris\u2010Saclay  Garches France"},{"name":"Doctoral School of Carol Davila University of Medicine and Pharmacy  Bucharest Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9line","family":"Tard","sequence":"additional","affiliation":[{"name":"Nord\u2010Est\u2010Ile\u2010de\u2010France Neuromuscular Reference Center, FHU PHENIX; Inserm  Paris France"},{"name":"Lille University Hospital Center  Lille France"},{"name":"Neuroscience &amp; Cognition University of Lille  Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maxime","family":"Fournier","sequence":"additional","affiliation":[{"name":"Department of Neurology CHU Caen  Caen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7oise","family":"Bouhour","sequence":"additional","affiliation":[{"name":"Service D'electroneuromyographie et Pathologies Neuromusculaires Hospices Civils de Lyon  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"B\u00e9hin","sequence":"additional","affiliation":[{"name":"Nord\u2010Est\u2010Ile\u2010de\u2010France Neuromuscular Reference Center, FHU PHENIX, APHP  Paris France"},{"name":"Service de Neuromyologie Institut de Myologie, GH Piti\u00e9 Salpetriere  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuelle","family":"Salort\u2010Campana","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Des, Maladies Neuromusculaires, H\u00f4pital Timone Adultes, Assistance Publique H\u00f4pitaux de Marseille, PACA  Marseille France"},{"name":"R\u00e9union Rhone Alpes Reference Center for Neuromuscular Diseases  Rhone Alpes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmeline","family":"Lagrange","sequence":"additional","affiliation":[{"name":"Department of Neurology Grenoble University Hospital  Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Laure","family":"Kaminsky","sequence":"additional","affiliation":[{"name":"Service de Neurologie, Centre R\u00e9f\u00e9rent Des Maladies Neuromusculaires Rares CHU de Saint Etienne  Saint\u2010Etienne France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7589-1421","authenticated-orcid":false,"given":"Armelle","family":"Magot","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Des, Maladies Neuromusculaires, AOC CHU H\u00f4tel Dieu  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"St\u00e9phane","family":"Beltran","sequence":"additional","affiliation":[{"name":"Centre SLA, Service de Neurologie CHU Bretonneau  Tours France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Baptiste","family":"Noury","sequence":"additional","affiliation":[{"name":"Neurology Department, Neuromuscular Center CHRU Cavale Blanche  Brest France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"Magy","sequence":"additional","affiliation":[{"name":"Service de Neurologie, Centre de r\u00e9f\u00e9rence Des Maladies Neuromusculaires H\u00f4pital Dupuytren, CHU de Limoges  Limoges France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guilhem","family":"Sol\u00e9","sequence":"additional","affiliation":[{"name":"Neuromuscular Reference Center Bordeaux University  Bordeaux France"},{"name":"Hospital (Pellegrin) University of Bordeaux  Bordeaux France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimitri","family":"Renard","sequence":"additional","affiliation":[{"name":"Department of Neurology, CHU Nimes University of Montpellier  Montpellier Nimes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Spinazzi","sequence":"additional","affiliation":[{"name":"Neuromuscular Reference Center, Department of Neurology University Hospital  Angers France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florence","family":"Demurger","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique CHBA  Vannes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascal","family":"Cintas","sequence":"additional","affiliation":[{"name":"Departement de Neurologie Hopital Purpan, CHU  Toulouse France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Nadaj\u2010Pakleza","sequence":"additional","affiliation":[{"name":"Nord\u2010Est\u2010Ile\u2010de\u2010France, Neuromuscular Reference Center, FHU PHENIX, ERN EURO\u2010NMD  Paris France"},{"name":"Department of Neurology University Hospital  Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joelle","family":"Deibener\u2010Kaminsky","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne et Immunologie Clinique CHU Nancy Brabois  Vand\u0153uvre\u2010l\u00e8s\u2010Nancy France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillaume","family":"Bassez","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence Des Maladies Neuromusculaires Nord\/Est\/Ile de France, Institut de Myologie H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re, Assistance Publique Des H\u00f4pitaux de Paris  Paris France"},{"name":"Centre de Recherche en Myologie, GH Piti\u00e9\u2010Salp\u00eatri\u00e8re Sorbonne Universit\u00e9\u2010Inserm UMRS974  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadjib","family":"Taouagh","sequence":"additional","affiliation":[{"name":"Neurology Department Raymond Poincare University Hospital  Garches France"},{"name":"Nord\u2010Est\u2010Ile\u2010de\u2010France Neuromuscular Reference Center, FHU, PHENIX  Garches France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azzedine","family":"Arrassi","sequence":"additional","affiliation":[{"name":"Nord\u2010Est\u2010Ile\u2010de\u2010France Neuromuscular Reference Center, FHU PHENIX, APHP  Paris France"},{"name":"Service de Neuromyologie, Institut de Myologie GH Piti\u00e9\u2010Salp\u00e9tri\u00e8re  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Lefeuvre","sequence":"additional","affiliation":[{"name":"Nord\u2010Est\u2010Ile\u2010de\u2010France Neuromuscular Reference Center, FHU, PHENIX  Garches France"},{"name":"Neurology Department Raymond Poincar\u00e9 University Hospital  Garches France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7211-4694","authenticated-orcid":false,"given":"Sharam","family":"Attarian","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Des, Maladies Neuromusculaires, H\u00f4pital Timone Adultes, Assistance Publique H\u00f4pitaux de Marseille, PACA  Marseille France"},{"name":"R\u00e9union Rh\u00f4ne Alpes Reference Center for Neuromuscular Diseases, FILNEMUS  Rhone Alpes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4853-8227","authenticated-orcid":false,"given":"Dalil","family":"Hamroun","sequence":"additional","affiliation":[{"name":"Centre Hospitalo\u2010Universitaire de Montpellier  Montpellier France"},{"name":"Direction de la Recherche et de L'innovation  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4489-4718","authenticated-orcid":false,"given":"Pascal","family":"Lafor\u00eat","sequence":"additional","affiliation":[{"name":"Neurology Department Raymond Poincar\u00e9 University Hospital  Garches France"},{"name":"Nord\u2010Est\u2010Ile\u2010de\u2010France Neuromuscular, Reference Center, FHU, PHENIX, U1179 INSERM  Paris France"},{"name":"Paris\u2010Saclay University, Universit\u00e9 Versailles Saint\u2010Quentin en Yvelines  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"for French Pompe study group","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,10,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(08)61555\u2010X"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100033\u20101334469"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-34"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010016\u20108219\u20108"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/biom13091279"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD012993.pub2"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12272"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000008441"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMOA0909859"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/ENE.16383"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/IJMS17101735"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.NMD.2008.11.007"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000207547"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/S00415\u2010005\u20100922\u20109"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/BRAIN\/AWH384"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.2147\/TCRM.S362871"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.NMD.2016.05.018"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/ENE.16428"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/S00415\u2010020\u201009936\u20108"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/S10072\u2010020\u201004819\u20102"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000313367.09469.13"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.5853\/JOS.2019.02985"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/S10545\u2010015\u20109913\u2010X"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.JSTROKECEREBROVASDIS.2008.06.006"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/JNNP\u20102012\u2010303073"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.3322\/CAAC.21763"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.NMD.2020.10.009"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/S10545\u2010013\u20109667\u20102"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.05.007"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022\u2010510X(90)90258\u2010O"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.3390\/JCM10153395\/S1"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2014_334"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.YMGMR.2016.06.002"},{"issue":"1","key":"e_1_2_9_35_1","article-title":"Hematological Findings in Lysosomal Storage Disorders: A Perspective From the Medical Laboratory","volume":"33","author":"Leal A. F.","year":"2022","journal-title":"EJIFCC"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.70394","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T18:38:00Z","timestamp":1761763080000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.70394"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":34,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1111\/ene.70394"],"URL":"https:\/\/doi.org\/10.1111\/ene.70394","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10]]},"assertion":[{"value":"2025-05-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70394"}}