{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T05:50:35Z","timestamp":1772689835368,"version":"3.50.1"},"reference-count":30,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100013995","name":"Sanofi Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013995","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":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2025,11]]},"DOI":"10.1016\/j.ymgme.2025.109237","type":"journal-article","created":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T01:32:21Z","timestamp":1758591141000},"page":"109237","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease"],"prefix":"10.1016","volume":"146","author":[{"given":"Neelam","family":"Makhijani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myriam","family":"Boueri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bijan","family":"Abar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tracy","family":"Boggs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura E.","family":"Case","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia L.","family":"Gonzalez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa D.","family":"Hobson-Webb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah P.","family":"Young","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priya S.","family":"Kishnani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.ymgme.2025.109237_bb0005","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.pedneo.2013.03.009","article-title":"Pompe disease: early diagnosis and early treatment make a difference","volume":"54","author":"Chien","year":"2013","journal-title":"Pediatr. Neonatol."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109237_bb0010","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1203\/PDR.0b013e3181b24e94","article-title":"Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease","volume":"66","author":"Kishnani","year":"2009","journal-title":"Pediatr. Res."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109237_bb0015","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ymgme.2016.12.004","article-title":"The emerging phenotype of late-onset Pompe disease: a systematic literature review","volume":"120","author":"Chan","year":"2017","journal-title":"Mol. Genet. Metab."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109237_bb0020","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1186\/s13023-021-02067-x","article-title":"Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective","volume":"16","author":"Hamed","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"issue":"21","key":"10.1016\/j.ymgme.2025.109237_bb0025","doi-asserted-by":"crossref","DOI":"10.3390\/jcm10214828","article-title":"A systematic review and meta-analysis of enzyme replacement therapy in late-onset Pompe disease","volume":"10","author":"Dornelles","year":"2021","journal-title":"J. Clin. Med."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109237_bb0030","doi-asserted-by":"crossref","first-page":"167","DOI":"10.3233\/JND-230164","article-title":"Long-term outcome of infantile onset Pompe disease patients treated with enzyme replacement therapy - data from a German-Austrian cohort","volume":"11","author":"Pfrimmer","year":"2024","journal-title":"J. Neuromuscul. Dis."},{"key":"10.1016\/j.ymgme.2025.109237_bb0035","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2024.1360369","article-title":"An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation","volume":"15","author":"Desai","year":"2024","journal-title":"Front. Immunol."},{"issue":"9","key":"10.1016\/j.ymgme.2025.109237_bb0040","first-page":"1091","article-title":"Enzyme replacement therapy for Pompe disease: the long-term efficacy and limitation","volume":"67","author":"Fukuda","year":"2015","journal-title":"Brain Nerve"},{"key":"10.1016\/j.ymgme.2025.109237_bb0045","doi-asserted-by":"crossref","first-page":"713","DOI":"10.2147\/TCRM.S362871","article-title":"Monitoring and management of respiratory function in Pompe disease: current perspectives","volume":"19","author":"El Haddad","year":"2023","journal-title":"Ther. Clin. Risk Manag."},{"issue":"6","key":"10.1016\/j.ymgme.2025.109237_bb0050","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1002\/mus.21015","article-title":"Muscle ultrasound in neuromuscular disorders","volume":"37","author":"Pillen","year":"2008","journal-title":"Muscle Nerve"},{"issue":"1","key":"10.1016\/j.ymgme.2025.109237_bb0055","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/S0030-5898(05)70010-9","article-title":"Musculoskeletal ultrasonography","volume":"29","author":"Jacobson","year":"1998","journal-title":"Orthop. Clin. North Am."},{"issue":"7","key":"10.1016\/j.ymgme.2025.109237_bb0060","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/j.nmd.2007.03.008","article-title":"Quantitative skeletal muscle ultrasound: diagnostic value in childhood neuromuscular disease","volume":"17","author":"Pillen","year":"2007","journal-title":"Neuromuscul. Disord."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109237_bb0065","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1002\/mus.22088","article-title":"Qualitative and quantitative skeletal muscle ultrasound in late-onset acid maltase deficiency","volume":"44","author":"Zaidman","year":"2011","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ymgme.2025.109237_bb0070","article-title":"Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: a pilot study of reliability, longitudinal change and correlation with function","volume":"28","author":"Hobson-Webb","year":"2021","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2025.109237_bb0075","article-title":"Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening","volume":"36","author":"Jackson","year":"2023","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"44","key":"10.1016\/j.ymgme.2025.109237_bb0080","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000008415","article-title":"Muscle ultrasound: a useful tool in newborn screening for infantile onset pompe disease","volume":"96","author":"Hwang","year":"2017","journal-title":"Medicine (Baltimore)"},{"issue":"12","key":"10.1016\/j.ymgme.2025.109237_bb0085","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1016\/S1474-4422(21)00241-6","article-title":"Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial","volume":"20","author":"Diaz-Manera","year":"2021","journal-title":"Lancet Neurol."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109237_bb0090","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1164\/ajrccm.166.1.at1102","article-title":"ATS statement: guidelines for the six-minute walk test","volume":"166","year":"2002","journal-title":"Am. J. Respir. Crit. Care Med."},{"issue":"4","key":"10.1016\/j.ymgme.2025.109237_bb0095","doi-asserted-by":"crossref","DOI":"10.1016\/j.jpeds.2006.12.052","article-title":"Six-minute walk test in children and adolescents","volume":"150","author":"Geiger","year":"2007","journal-title":"J. Pediatr."},{"issue":"6","key":"10.1016\/j.ymgme.2025.109237_bb0100","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1590\/S1413-35552012005000122","article-title":"Reference equations for the six-minute walk distance based on a Brazilian multicenter study","volume":"17","author":"Britto","year":"2013","journal-title":"Braz. J. Phys. Ther."},{"issue":"6","key":"10.1016\/j.ymgme.2025.109237_bb0105","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1002\/mus.23340","article-title":"New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy","volume":"45","author":"Angelini","year":"2012","journal-title":"Muscle Nerve"},{"issue":"2","key":"10.1016\/j.ymgme.2025.109237_bb0110","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/s10545-011-9388-3","article-title":"The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients","volume":"35","author":"van Capelle","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109237_bb0115","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1111\/j.1469-8749.1989.tb04003.x","article-title":"The gross motor function measure: a means to evaluate the effects of physical therapy","volume":"31","author":"Russell","year":"1989","journal-title":"Dev. Med. Child Neurol."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109237_bb0120","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1002\/mus.880040304","article-title":"Clinical trial in Duchenne dystrophy. I. The design of the protocol","volume":"4","author":"Brooke","year":"1981","journal-title":"Muscle Nerve"},{"issue":"4","key":"10.1016\/j.ymgme.2025.109237_bb0125","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1080\/J006v27n04_06","article-title":"Review of the Bruininks-Oseretsky test of motor proficiency, second edition (BOT-2)","volume":"27","author":"Deitz","year":"2007","journal-title":"Phys. Occup. Ther. Pediatr."},{"key":"10.1016\/j.ymgme.2025.109237_bb0130","series-title":"Encyclopedia of Autism Spectrum Disorders","first-page":"2138","article-title":"Peabody developmental motor scales (PDMS)","author":"Watling","year":"2013"},{"key":"10.1016\/j.ymgme.2025.109237_bb0135","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2022.927502","article-title":"The Alberta infant motor scale: a tool for the assessment of motor aspects of neurodevelopment in infancy and early childhood","volume":"13","author":"Eliks","year":"2022","journal-title":"Front. Neurol."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109237_bb0140","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1002\/mus.21458","article-title":"Normal values for quantitative muscle ultrasonography in adults","volume":"41","author":"Arts","year":"2010","journal-title":"Muscle Nerve"},{"issue":"1","key":"10.1016\/j.ymgme.2025.109237_bb0145","first-page":"94","article-title":"Quantitative whole-body magnetic resonance imaging in children with Pompe disease: clinical tools to evaluate severity of muscle disease","volume":"57","author":"Fernandes","year":"2021","journal-title":"JIMD Rep."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109237_bb0150","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2022.10.010","article-title":"Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: the 6-month primary analysis report","volume":"25","author":"Kishnani","year":"2023","journal-title":"Genet. Med."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719225002288?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719225002288?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T19:50:06Z","timestamp":1769716206000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719225002288"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":30,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["S1096719225002288"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2025.109237","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2025,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2025.109237","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"109237"}}