{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T19:58:12Z","timestamp":1782417492389,"version":"3.54.5"},"reference-count":40,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T00:00:00Z","timestamp":1769731200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000774","name":"Newcastle University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000774","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012295","name":"NIHR Newcastle Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012295","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2026,3]]},"DOI":"10.1016\/j.nmd.2026.106359","type":"journal-article","created":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T16:30:09Z","timestamp":1769531409000},"page":"106359","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease"],"prefix":"10.1016","volume":"60","author":[{"given":"Cristina","family":"Dom\u00ednguez-Gonz\u00e1lez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Iannucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Clark","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paloma","family":"Mart\u00edn-Jim\u00e9nez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Hold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Oliva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Bischinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduard","family":"Gallardo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2941-7988","authenticated-orcid":false,"given":"Jordi","family":"D\u00edaz-Manera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2026.106359_bib0001","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","article-title":"Pompe's disease","volume":"372","author":"van der Ploeg","year":"2008","journal-title":"Lancet"},{"issue":"9","key":"10.1016\/j.nmd.2026.106359_bib0002","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.3390\/biom10091339","article-title":"Pompe Disease: new developments in an old lysosomal storage disorder","volume":"10","author":"Meena","year":"2020","journal-title":"Biomolecules"},{"key":"10.1016\/j.nmd.2026.106359_bib0003","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1002\/ajmg.c.31322","article-title":"Toward deconstructing the phenotype of late-onset Pompe disease","volume":"160C","author":"Schuller","year":"2012","journal-title":"Am J Med Genet C: Semin Med Genet"},{"key":"10.1016\/j.nmd.2026.106359_bib0004","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.nmd.2026.106359_bib0005","doi-asserted-by":"crossref","first-page":"e72","DOI":"10.1212\/WNL.0000000000201333","article-title":"Motor function characteristics of adults with late-onset Pompe disease: a systematic scoping review","volume":"100","author":"Maulet","year":"2023","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2026.106359_bib0006","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1016\/S1474-4422(21)00331-8","article-title":"Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial","volume":"20","author":"Schoser","year":"2021","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.nmd.2026.106359_bib0007","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"},{"key":"10.1016\/j.nmd.2026.106359_bib0008","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1056\/NEJMoa0909859","article-title":"A randomized study of alglucosidase alfa in late-onset Pompe's disease","volume":"362","author":"van der Ploeg","year":"2010","journal-title":"N Engl J Med"},{"key":"10.1016\/j.nmd.2026.106359_bib0009","doi-asserted-by":"crossref","first-page":"e1756","DOI":"10.1212\/WNL.0000000000008441","article-title":"Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease","volume":"93","author":"Harlaar","year":"2019","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2026.106359_bib0010","doi-asserted-by":"crossref","first-page":"2482","DOI":"10.1007\/s00415-021-10409-9","article-title":"STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa","volume":"268","author":"Gutschmidt","year":"2021","journal-title":"J Neurol"},{"key":"10.1016\/j.nmd.2026.106359_bib0011","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.nmd.2023.10.001","article-title":"Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry","volume":"34","author":"Martinez-Marin","year":"2024","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2026.106359_bib0012","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1007\/s00415-025-13266-y","article-title":"Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial","volume":"272","author":"Kishnani","year":"2025","journal-title":"J Neurol"},{"key":"10.1016\/j.nmd.2026.106359_bib0013","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1097\/WCO.0000000000001385","article-title":"Enzyme replacement therapies in adults with Pompe disease: from trials to real-world data","volume":"38","author":"van der Beek","year":"2025","journal-title":"Curr Opin Neurol"},{"key":"10.1016\/j.nmd.2026.106359_bib0014","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.ymgme.2005.03.010","article-title":"Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease","volume":"85","author":"An","year":"2005","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nmd.2026.106359_bib0015","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1097\/GIM.0b013e3181a87867","article-title":"Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker","volume":"11","author":"Young","year":"2009","journal-title":"Genet Med"},{"key":"10.1016\/j.nmd.2026.106359_bib0016","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1002\/ajmg.c.31320","article-title":"Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques","volume":"160C","author":"Young","year":"2012","journal-title":"Am J Med Genet C: Semin Med Genet"},{"key":"10.1016\/j.nmd.2026.106359_bib0017","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1002\/jcsm.12555","article-title":"Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles","volume":"11","author":"Nunez-Peralta","year":"2020","journal-title":"J Cachexia Sarcopenia Muscle"},{"key":"10.1016\/j.nmd.2026.106359_bib0018","article-title":"Magnetization transfer ratio in lower limbs of late onset pompe patients correlates with intramuscular fat fraction and muscle function tests","volume":"12","author":"Nunez-Peralta","year":"2021","journal-title":"Front Neurol"},{"key":"10.1016\/j.nmd.2026.106359_bib0019","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0163493","article-title":"Muscle MRI findings in childhood\/adult onset Pompe disease correlate with Muscle function","volume":"11","author":"Figueroa-Bonaparte","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.nmd.2026.106359_bib0020","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-018-29170-7","article-title":"Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study","volume":"8","author":"Figueroa-Bonaparte","year":"2018","journal-title":"Sci Rep"},{"key":"10.1016\/j.nmd.2026.106359_bib0021","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.ymgme.2021.08.006","article-title":"Detecting lysosomal storage disorders by glycomic profiling using liquid chromatography mass spectrometry","volume":"134","author":"Mak","year":"2021","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nmd.2026.106359_bib0022","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.clinms.2018.11.002","article-title":"A fully automated high-throughput liquid chromatography tandem mass spectrometry method for measuring creatinine in urine","volume":"11","author":"Zahoor","year":"2019","journal-title":"Clin Mass Spectrom"},{"key":"10.1016\/j.nmd.2026.106359_bib0023","article-title":"Urine glucose tetrasaccharide: a good biomarker for glycogenoses type II and III? A study of the French cohort","volume":"23","author":"Piraud","year":"2020","journal-title":"Mol Genet Metab Rep"},{"key":"10.1016\/j.nmd.2026.106359_bib0024","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1097\/01823246-201324030-00004","article-title":"Clinically meaningful change estimates for the six-minute walk test and daily activity in individuals with chronic heart failure","volume":"24","author":"Shoemaker","year":"2013","journal-title":"Cardiopulm Phys Ther J"},{"key":"10.1016\/j.nmd.2026.106359_bib0025","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/s13023-023-02974-1","article-title":"Applying the win ratio method in clinical trials of orphan drugs: an analysis of data from the COMET trial of avalglucosidase alfa in patients with late-onset Pompe disease","volume":"19","author":"Boentert","year":"2024","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.nmd.2026.106359_bib0026","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1111\/jep.12629","article-title":"Minimal clinically important difference for change in 6-minute walk test distance of adults with pathology: a systematic review","volume":"23","author":"Bohannon","year":"2017","journal-title":"J Eval Clin Pract"},{"key":"10.1016\/j.nmd.2026.106359_bib0027","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1111\/nan.12580","article-title":"An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease","volume":"46","author":"Kulessa","year":"2020","journal-title":"Neuropathol Appl Neurobiol"},{"key":"10.1016\/j.nmd.2026.106359_bib0028","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.nmd.2016.10.010","article-title":"Quantification of muscle pathology in infantile Pompe disease","volume":"27","author":"Schanzer","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2026.106359_bib0029","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2025.101373","article-title":"Efficacy of transitioning from alglucosidase alfa to avalglucosidase alfa in infantile-onset Pompe disease: a single-center cohort analysis","volume":"27","author":"Chien","year":"2025","journal-title":"Genet Med"},{"key":"10.1016\/j.nmd.2026.106359_bib0030","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1002\/nbm.3531","article-title":"Methodological and physiological test-retest reliability of (13) C-MRS glycogen measurements in liver and in skeletal muscle of patients with type 1 diabetes and matched healthy controls","volume":"29","author":"Buehler","year":"2016","journal-title":"NMR Biomed"},{"key":"10.1016\/j.nmd.2026.106359_bib0031","doi-asserted-by":"crossref","DOI":"10.1016\/j.medcli.2024.05.022","article-title":"Adult Pompe disease: analysis of 13 patients","volume":"164","author":"Martin-Jimenez","year":"2025","journal-title":"Med Clin (Barc)"},{"key":"10.1016\/j.nmd.2026.106359_bib0032","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0158912","article-title":"Quantification of diaphragm mechanics in Pompe disease using dynamic 3D MRI","volume":"11","author":"Mogalle","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.nmd.2026.106359_bib0033","doi-asserted-by":"crossref","first-page":"8681","DOI":"10.1007\/s00330-022-08940-y","article-title":"MRI changes in diaphragmatic motion and curvature in Pompe disease over time","volume":"32","author":"Harlaar","year":"2022","journal-title":"Eur Radiol"},{"key":"10.1016\/j.nmd.2026.106359_bib0034","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2021.731865","article-title":"Respiratory muscle function tests and diaphragm ultrasound predict nocturnal hypoventilation in slowly progressive myopathies","volume":"12","author":"Spiesshoefer","year":"2021","journal-title":"Front Neurol"},{"key":"10.1016\/j.nmd.2026.106359_bib0035","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1002\/mus.27099","article-title":"Skeletal muscle magnetic resonance imaging in Pompe disease","volume":"63","author":"Diaz-Manera","year":"2021","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2026.106359_bib0036","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1007\/s10545-015-9825-9","article-title":"Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients","volume":"38","author":"Carlier","year":"2015","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.nmd.2026.106359_bib0037","doi-asserted-by":"crossref","DOI":"10.1136\/jnnp-2025-336628","article-title":"Quantification of muscle glycogen distribution in Pompe disease using 7 tesla (13)C NMR spectroscopy","author":"Beha","year":"2025","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.nmd.2026.106359_bib0038","doi-asserted-by":"crossref","first-page":"1782","DOI":"10.1002\/mrm.30371","article-title":"Simultaneous monitoring of glycogen, creatine, and phosphocreatine in type II glycogen storage disease using saturation transfer MRI","volume":"93","author":"Bie","year":"2025","journal-title":"Magn Reson Med"},{"key":"10.1016\/j.nmd.2026.106359_bib0039","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1002\/mrm.1910370604","article-title":"Evidence for 100% 13C NMR visibility of glucose in human skeletal muscle","volume":"37","author":"Roussel","year":"1997","journal-title":"Magn Reson Med"},{"key":"10.1016\/j.nmd.2026.106359_bib0040","first-page":"67","article-title":"Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset Pompe disease identified by newborn screening","volume":"19","author":"Chien","year":"2015","journal-title":"JIMD Rep"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896626000271?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896626000271?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T11:10:11Z","timestamp":1774005011000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896626000271"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":40,"alternative-id":["S0960896626000271"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2026.106359","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2026,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2026.106359","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"106359"}}