{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T04:31:23Z","timestamp":1781152283493,"version":"3.54.1"},"reference-count":48,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T00:00:00Z","timestamp":1725321600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"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"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Late\u2010onset Pompe disease (LOPD) is caused by a genetic deficiency of the lysosomal enzyme acid alpha\u2010glucosidase (GAA), leading to progressive limb\u2010girdle weakness and respiratory impairment. The insidious onset of non\u2010specific early symptoms often prohibits timely diagnosis. This study aimed to validate the high\u2010risk screening criteria for LOPD in the Chinese population. A total of 726 patients were included, including 96 patients under 14\u2009years of age. Dried blood spots (DBS) and tandem mass spectrometry (MS\/MS) were employed to evaluate serum GAA activity. Forty\u2010four patients exhibited a decreased GAA activity, 16 (2.2%) of which were confirmed as LOPD by genetic testing. Three previously unreported GAA mutations were also identified. The median diagnostic delay was shortened to 3\u2009years, which excelled the previous retrospective studies. At diagnosis, most patients exhibited impaired respiratory function and\/or limb\u2010girdle weakness. Elevated serum creatine kinase (CK) levels were more frequently observed in patients who manifested before age 16. Overall, high\u2010risk screening is a feasible and efficient method to identify LOPD patients at an early stage. Patients over 1\u2009year of age with either weakness in axial and\/or proximal limb muscles, or unexplained respiratory distress shall be subject to GAA enzymatic test, while CK levels above 2 times the upper normal limit shall be an additional criterion for patients under 16. This modified high\u2010risk screening criteria for LOPD requires further validation in larger Chinese cohorts.<\/jats:p>","DOI":"10.1002\/jimd.12793","type":"journal-article","created":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T22:11:05Z","timestamp":1725401465000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["High\u2010risk screening for late\u2010onset Pompe disease in China: An expanded multicenter study"],"prefix":"10.1002","volume":"48","author":[{"given":"Kexin","family":"Jiao","sequence":"first","affiliation":[{"name":"Department of Neurology, Huashan Hospital Fudan University  Shanghai China"},{"name":"National Center for Neurological Disorders (NCND), 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), Huashan Rare Disease Center, Shanghai Medical College, Huashan Hospital Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueli","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Neurology, First Hospital Shanxi Medical University  Taiyuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junhong","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Neurology, First Hospital Shanxi Medical University  Taiyuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Neurology Henan Provincial People's Hospital  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueqin","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Neurology Second Hospital of Hebei Medical University  Shijiazhuang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuen","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Institute of Neurology Anhui University of Traditional Chinese Medicine  Hefei China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoge","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology Northwest Women's and Children's Hospital  Xi'an China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jihong","family":"Dong","sequence":"additional","affiliation":[{"name":"Department of Neurology, Zhongshan Hospital Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wang","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Neurology Ningbo No.2 Hospital  Ningbo China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinghua","family":"Luan","sequence":"additional","affiliation":[{"name":"Department of Neurology Shanghai Jiao Tong University Affiliated Sixth People's Hospital  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiqiang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Fujian Medical University  Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital of Shanxi Province  Taiyuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijun","family":"Du","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital of Shanxi Province  Taiyuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liqiang","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Soochow University  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yali","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology Chifeng Municipal Hospital  Chifeng China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingjing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology Chifeng Municipal Hospital  Chifeng China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology Tongji Hospital of Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease Hebei Medical University Third Hospital  Shijiazhuang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhe","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease Hebei Medical University Third Hospital  Shijiazhuang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xijing Hospital Air Force Medical University  Xi'an China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Song","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Neurology Sichuan Provincial People's Hospital, Sichuan Academy of Medical Sciences  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyun","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tianjin First Central Hospital Nankai University  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanshan","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Neurology The Children's Hospital of Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fangyuan","family":"Qian","sequence":"additional","affiliation":[{"name":"Department of Neurology, ZhongDa Hospital Southeast University  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronghua","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Neurology West China Second Hospital of Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changxia","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Yancheng First Hospital Affiliated Hospital of Nanjing University Medical School, The First people's Hospital of Yancheng  Jiangsu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengyu","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Neurology, RenJi Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology, Shanghai Dongfang Hospital Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xia","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology Xi'an Children's Hospital  China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijun","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Neurology Wuhan No.1 Hospital  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Tianjin Children's Hospital Tianjin University Children's Hospital  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanlin","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Neurology Taizhou Hospital of Zhejiang Province  Taizhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiafei","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Neurology Taizhou Hospital of Zhejiang Province  Taizhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefan","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Hospital of Jilin University  Changchun China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongguang","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Hospital of Jilin University  Changchun China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianming","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Neurology Changhai Hospital  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jialong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, 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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ningning","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, 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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongyue","family":"Yue","sequence":"additional","affiliation":[{"name":"Department of Neurology Jing'an District Center Hospital of Shanghai  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":"Jianying","family":"Xi","sequence":"additional","affiliation":[{"name":"Department of Neurology, 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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiahong","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Neurology, 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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Ke","sequence":"additional","affiliation":[{"name":"Department of Neurology, The First Affiliated Hospital Zhejiang University School of Medicine  Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingming","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Neurology, First Hospital Shanxi Medical University  Taiyuan 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"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,3]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(08)61555\u2010X"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20107\u201035"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31322"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20106\u201034"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0909859"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010021\u201010526\u20105"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2011.12.010"},{"key":"e_1_2_11_9_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_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2013.03.009"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.09.015"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010019\u20101054\u20100"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.03.005"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/ane.13133"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp\u20102014\u2010310164"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.09.001"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010023\u201002887\u2010z"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.11.003"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.965207"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2011.164640"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac900504s"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010006\u20100265\u20104"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000217785.19262.9e"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010021\u201000959\u2010x"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkac1072"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12404"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.03.002"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002758"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010017\u20100722\u20101"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.12.008"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.04.008"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.03.010"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2024.10754"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.06.010"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.09.004"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010013\u20109671\u20106"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038\u2010019\u20100603\u20107"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2021.12.072"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.11.053"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2014.01.030"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2017.10.009"},{"key":"e_1_2_11_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.12.013"},{"key":"e_1_2_11_44_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2016.269027"},{"key":"e_1_2_11_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2020.03.016"},{"key":"e_1_2_11_46_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010016\u20108219\u20108"},{"key":"e_1_2_11_47_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm10214828"},{"key":"e_1_2_11_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2022.01.001"},{"key":"e_1_2_11_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474\u20104422(21)00241\u20106"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12793","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,11]],"date-time":"2025-08-11T10:09:05Z","timestamp":1754906945000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12793"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,3]]},"references-count":48,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1002\/jimd.12793"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12793","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,3]]},"assertion":[{"value":"2024-06-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-03","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e12793"}}