{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T17:41:27Z","timestamp":1780508487067,"version":"3.54.1"},"reference-count":25,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,7,14]],"date-time":"2024-07-14T00:00:00Z","timestamp":1720915200000},"content-version":"am","delay-in-days":348,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2023,8]]},"DOI":"10.1016\/j.ymgme.2023.107650","type":"journal-article","created":{"date-parts":[[2023,7,11]],"date-time":"2023-07-11T12:34:58Z","timestamp":1689078898000},"page":"107650","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings"],"prefix":"10.1016","volume":"139","author":[{"given":"Ana\u00efs","family":"Brassier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samia","family":"Pichard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Schiff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Bouchereau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire-Marine","family":"B\u00e9rat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Caillaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aude","family":"Pion","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diala","family":"Khraiche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Fauroux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehdi","family":"Oualha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Barnerias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Desguerre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Hully","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Maquet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elodie","family":"Deladri\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"de Lonlay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Gitiaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2023.107650_bb0005","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgme.2011.02.004","article-title":"Pompe disease: design, methodology, and early findings from the Pompe registry","volume":"103","author":"Byrne","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107650_bb0010","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1055\/s-0041-1735250","article-title":"Clinical and genetic aspects of juvenile onset Pompe disease","volume":"53","author":"Holzwarth","year":"2022","journal-title":"Neuropediatrics."},{"key":"10.1016\/j.ymgme.2023.107650_bb0015","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.jpeds.2015.10.078","article-title":"Very early treatment for infantile-onset Pompe disease contributes to better outcomes","volume":"169","author":"Yang","year":"2016","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2023.107650_bb0020","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.jpeds.2019.08.058","article-title":"Clinical and molecular disease Spectrum and outcomes in patients with infantile-onset Pompe disease","volume":"216","author":"Gupta","year":"2020","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2023.107650_bb0025","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1016\/j.nmd.2019.09.011","article-title":"Clinical features of Pompe disease with motor neuronopathy","volume":"29","author":"Tsai","year":"2019","journal-title":"Neuromuscul. Disord. NMD"},{"key":"10.1016\/j.ymgme.2023.107650_bb0030","article-title":"Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: a French real-life observational study","year":"2023","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.ymgme.2023.107650_bb0035","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.jpeds.2005.11.033","article-title":"A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease","volume":"148","author":"Kishnani","year":"2006","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2023.107650_bb0040","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1002\/ajmg.a.35662","article-title":"How to describe the clinical spectrum in Pompe disease?","volume":"161A","author":"G\u00fcng\u00f6r","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2023.107650_bb0045","series-title":"Pediatric Electromyography","first-page":"373","article-title":"Normal Values Tables","author":"Kang","year":"2017"},{"key":"10.1016\/j.ymgme.2023.107650_bb0050","first-page":"135","article-title":"Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease","volume":"14","author":"Messinger","year":"2012","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"issue":"e86821","key":"10.1016\/j.ymgme.2023.107650_bb0055","first-page":"86821","article-title":"Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses","volume":"1","author":"Kazi","year":"2016","journal-title":"JCI Insight"},{"issue":"8","key":"10.1016\/j.ymgme.2023.107650_bb0060","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1097\/NEN.0b013e3181815994","article-title":"Temporal neuropathologic and behavioral phenotype of 6neo\/6neo Pompe disease mice","volume":"67","author":"Rl","year":"2008","journal-title":"J. Neuropathol. Exp. Neurol. [Internet]"},{"key":"10.1016\/j.ymgme.2023.107650_bb0070","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/s13023-018-0771-0","article-title":"Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy","volume":"13","author":"Parini","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2023.107650_bb0075","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1007\/s10545-010-9206-3","article-title":"Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience","volume":"33","author":"Chakrapani","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2023.107650_bb0080","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/s10545-015-9898-5","article-title":"Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy","volume":"39","author":"Broomfield","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2023.107650_bb0085","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/s10545-014-9707-6","article-title":"Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease","volume":"38","author":"van Gelder","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2023.107650_bb0090","doi-asserted-by":"crossref","DOI":"10.1016\/j.jpeds.2014.10.068","article-title":"Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth","volume":"166","author":"Chien","year":"2015","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2023.107650_bb0095","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1023\/B:BOLI.0000031101.12838.c6","article-title":"Enzyme replacement and enhancement therapies for lysosomal diseases","volume":"27","author":"Desnick","year":"2004","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2023.107650_bb0100","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/S2352-4642(21)00308-4","article-title":"Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium","volume":"6","author":"Ditters","year":"2022","journal-title":"Lancet Child. Adolesc. Health"},{"key":"10.1016\/j.ymgme.2023.107650_bb0105","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.ymgme.2009.08.003","article-title":"Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants","volume":"99","author":"Kishnani","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107650_bb0110","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2021.636731","article-title":"Immune tolerance-adjusted personalized immunogenicity prediction for Pompe disease","volume":"12","author":"De Groot","year":"2021","journal-title":"Front. Immunol."},{"key":"10.1016\/j.ymgme.2023.107650_bb0115","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1002\/ajmg.a.61481","article-title":"Airway abnormalities in very early treated infantile-onset Pompe disease: a large-scale survey by flexible bronchoscopy","volume":"182","author":"Yang","year":"2020","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2023.107650_bb0120","doi-asserted-by":"crossref","first-page":"2218","DOI":"10.1016\/j.apmr.2013.04.001","article-title":"Motor function measure: validation of a short form for young children with neuromuscular diseases","volume":"94","author":"de Lattre","year":"2013","journal-title":"Arch. Phys. Med. Rehabil."},{"key":"10.1016\/j.ymgme.2023.107650_bb0125","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1007\/s10545-018-0166-3","article-title":"Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy","volume":"41","author":"van der Meijden","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2023.107650_bb0130","doi-asserted-by":"crossref","first-page":"S4","DOI":"10.1542\/peds.2016-0280C","article-title":"Pompe disease newborn screening working group. Newborn screening for Pompe disease","volume":"140","author":"Bodamer","year":"2017","journal-title":"Pediatrics."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719223002809?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719223002809?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T23:54:22Z","timestamp":1761090862000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719223002809"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8]]},"references-count":25,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["S1096719223002809"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2023.107650","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2023,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2023.107650","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"107650"}}