{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:25:56Z","timestamp":1792085156112,"version":"4.4.0"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T00:00:00Z","timestamp":1703030400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171398"],"award-info":[{"award-number":["82171398"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271437"],"award-info":[{"award-number":["82271437"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["20S31904200"],"award-info":[{"award-number":["20S31904200"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["19ZR1445300"],"award-info":[{"award-number":["19ZR1445300"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Surveys and retrospective studies have revealed considerable delays in diagnosing late\u2010onset Pompe disease (LOPD) in China, where the contributing factors remain poorly represented. Our study analyzed the diagnostic journey of 34 LOPD patients seen at our neuromuscular clinic from 2005 to 2022. We defined diagnostic delay as the time from the onset of the first relevant symptoms and laboratory findings suggestive of LOPD to the eventual diagnosis, and we constructed a correlation matrix to assess relationships among these variables. The cohort consisted of 34 patients with an equal male\u2010to\u2010female ratio, and the mean age at diagnosis was 27.68\u2009\u00b1\u200910.03\u2009years. We found the median diagnostic delay to be 5\u2009years, with a range of 0.3 to 20\u2009years, with 97.1% having been misdiagnosed previously, most commonly with \u201cType II Respiratory insufficiency\u201d (36.7%). Notably, patients at earlier onset (mean age, 18.19\u2009years vs. 31\u2009years; <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.005) tended to have higher creatine kinase (CK) levels. Furthermore, 92.6% reported difficulty in sitting up from a supine position since childhood. Our research emphasizes the role of early indicators like dyspnea and difficulty performing sit\u2010ups in adolescents for timely LOPD diagnosis and treatment initiation. The importance of early high\u2010risk screening using dried blood spot testing cannot be overstated.<\/jats:p>","DOI":"10.1002\/jmd2.12404","type":"journal-article","created":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T08:34:20Z","timestamp":1703061260000},"page":"39-46","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Diagnostic delay in late\u2010onset Pompe disease among Chinese patients: A retrospective study"],"prefix":"10.1002","volume":"65","author":[{"given":"Dongyue","family":"Yue","sequence":"first","affiliation":[{"name":"Department of Neurology Jing'an District Center Hospital of Shanghai  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kexin","family":"Jiao","sequence":"additional","affiliation":[{"name":"Department of Neurology Huashan Hospital, Fudan University  Shanghai China"},{"name":"National Center for Neurological Disorders (NCND)  Shanghai China"},{"name":"Huashan Rare Disease Center Shanghai Medical College, Huashan Hospital, Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingyu","family":"Xia","sequence":"additional","affiliation":[{"name":"Department of Neurology Huashan Hospital, Fudan University  Shanghai China"},{"name":"National Center for Neurological Disorders (NCND)  Shanghai China"},{"name":"Huashan Rare Disease Center Shanghai Medical College, Huashan Hospital, Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jialong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology Huashan Hospital, Fudan University  Shanghai China"},{"name":"National Center for Neurological Disorders (NCND)  Shanghai China"},{"name":"Huashan Rare Disease Center Shanghai Medical College, Huashan Hospital, Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bochen","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Neurology Huashan Hospital, Fudan University  Shanghai China"},{"name":"National Center for Neurological Disorders (NCND)  Shanghai China"},{"name":"Huashan Rare Disease Center Shanghai Medical College, Huashan Hospital, Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingchun","family":"Liu","sequence":"additional","affiliation":[{"name":"The First People's Hospital of Yunnan Province  Yunnan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunzhao","family":"Du","sequence":"additional","affiliation":[{"name":"Jinshan Hospital Center for Neurosurgery, Jinshan Hospital, Institute for Translational Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingshi","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Pathology Huashan Hospital, Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nachuan","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Neurology Huashan Hospital, Fudan University  Shanghai China"},{"name":"National Center for Neurological Disorders (NCND)  Shanghai China"},{"name":"Huashan Rare Disease Center Shanghai Medical College, Huashan Hospital, Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ningning","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology Huashan Hospital, Fudan University  Shanghai China"},{"name":"National Center for Neurological Disorders (NCND)  Shanghai China"},{"name":"Huashan Rare Disease Center Shanghai Medical College, Huashan Hospital, Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sushan","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Neurology Huashan Hospital, Fudan University  Shanghai China"},{"name":"National Center for Neurological Disorders (NCND)  Shanghai China"},{"name":"Huashan Rare Disease Center Shanghai Medical College, Huashan Hospital, Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianying","family":"Xi","sequence":"additional","affiliation":[{"name":"Department of Neurology Huashan Hospital, Fudan University  Shanghai China"},{"name":"National Center for Neurological Disorders (NCND)  Shanghai China"},{"name":"Huashan Rare Disease Center Shanghai Medical College, Huashan Hospital, Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiahong","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Neurology Huashan Hospital, Fudan University  Shanghai China"},{"name":"National Center for Neurological Disorders (NCND)  Shanghai China"},{"name":"Huashan Rare Disease Center Shanghai Medical College, Huashan Hospital, Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chongbo","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Neurology Huashan Hospital, Fudan University  Shanghai China"},{"name":"National Center for Neurological Disorders (NCND)  Shanghai China"},{"name":"Huashan Rare Disease Center Shanghai Medical College, Huashan Hospital, Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8011-0274","authenticated-orcid":false,"given":"Wenhua","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Neurology Huashan Hospital, Fudan University  Shanghai China"},{"name":"National Center for Neurological Disorders (NCND)  Shanghai China"},{"name":"Huashan Rare Disease Center Shanghai Medical College, Huashan Hospital, Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,12,20]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000218152.87434.f3"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2720493"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(98)00002-9"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13285"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.03.011"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.08.005"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-34"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/life10040043"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12062"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1054-0"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2013.03.009"},{"key":"e_1_2_14_13_1","first-page":"78","article-title":"Early is better? A new algorithm for early diagnosis in late onset Pompe disease (LOPD)","volume":"32","author":"Toscano A","year":"2013","journal-title":"Acta Myol"},{"key":"e_1_2_14_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9451-8"},{"key":"e_1_2_14_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36110"},{"key":"e_1_2_14_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.06.010"},{"key":"e_1_2_14_17_1","first-page":"994","article-title":"Chinese expert consensus on the diagnosis and treatment of late\u2010onset glycogen accumulation disease type II (Pompe disease) in adults","volume":"54","author":"Association, NSotCM","year":"2021","journal-title":"Chin J Neurol"},{"key":"e_1_2_14_18_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.965207"},{"key":"e_1_2_14_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.03.002"},{"key":"e_1_2_14_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2017.10.009"},{"key":"e_1_2_14_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002758"},{"key":"e_1_2_14_22_1","first-page":"5","article-title":"LOPED study: looking for an early diagnosis in a late\u2010onset Pompe disease high\u2010risk population","volume":"87","author":"Musumeci O","year":"2016","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"e_1_2_14_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.03.005"},{"key":"e_1_2_14_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36197"},{"key":"e_1_2_14_25_1","doi-asserted-by":"publisher","DOI":"10.21037\/atm.2019.06.60"},{"key":"e_1_2_14_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2016_563"},{"key":"e_1_2_14_27_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-014-0141-2"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,19]],"date-time":"2024-01-19T02:07:09Z","timestamp":1705630029000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,20]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/jmd2.12404"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12404","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,20]]},"assertion":[{"value":"2023-08-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}