{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,12,14]],"date-time":"2024-12-14T00:10:21Z","timestamp":1734135021651,"version":"3.30.2"},"reference-count":38,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,5,12]],"date-time":"2024-05-12T00:00:00Z","timestamp":1715472000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pediatrics: Clinical Practice"],"published-print":{"date-parts":[[2024,12]]},"DOI":"10.1016\/j.jpedcp.2024.200116","type":"journal-article","created":{"date-parts":[[2024,5,16]],"date-time":"2024-05-16T01:17:38Z","timestamp":1715822258000},"page":"200116","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Health-Related Quality of Life and Fatigue in Children with Pompe Disease"],"prefix":"10.1016","volume":"14","author":[{"given":"Linda E.","family":"Scheffers","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karolijn","family":"Dulfer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte","family":"Lanser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maarten","family":"Mackenbach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ans T.","family":"van der Ploeg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johanna M.P.","family":"van den Hout","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda E.","family":"van den Berg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpedcp.2024.200116_bib1","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"},{"key":"10.1016\/j.jpedcp.2024.200116_bib2","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1542\/peds.112.2.332","article-title":"The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature","volume":"112","author":"van den Hout","year":"2003","journal-title":"Pediatrics"},{"key":"10.1016\/j.jpedcp.2024.200116_bib3","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.jpedcp.2024.200116_bib4","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"},{"key":"10.1016\/j.jpedcp.2024.200116_bib5","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.jpedcp.2024.200116_bib6","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/S0140-6736(00)02533-2","article-title":"Recombinant human alpha-glucosidase from rabbit milk in Pompe patients","volume":"356","author":"Van den Hout","year":"2000","journal-title":"Lancet"},{"key":"10.1016\/j.jpedcp.2024.200116_bib7","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1186\/s13023-018-0824-4","article-title":"Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients","volume":"13","author":"van der Meijden","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jpedcp.2024.200116_bib8","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1186\/s13023-020-01482-w","article-title":"Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients","volume":"15","author":"van den Dorpel","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jpedcp.2024.200116_bib9","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1186\/1750-1172-8-90","article-title":"Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy","volume":"8","author":"Prater","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jpedcp.2024.200116_bib10","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1007\/s10545-015-9912-y","article-title":"Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study","volume":"39","author":"van Gelder","year":"2016","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jpedcp.2024.200116_bib11","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1007\/s10545-010-9144-0","article-title":"Hearing loss in Pompe disease revisited: results from a study of 24 children","volume":"33","author":"van Capelle","year":"2010","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jpedcp.2024.200116_bib12","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.jpedcp.2024.200116_bib13","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1111\/dmcn.13740","article-title":"Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain","volume":"60","author":"Ebbink","year":"2018","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.jpedcp.2024.200116_bib14","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1212\/WNL.0b013e3182553c11","article-title":"Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy","volume":"78","author":"Ebbink","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.jpedcp.2024.200116_bib15","doi-asserted-by":"crossref","first-page":"e594","DOI":"10.1212\/WNL.0000000000207482","article-title":"Neurofilament light and its association with CNS involvement in patients with classic infantile Pompe disease","volume":"101","author":"Mackenbach","year":"2023","journal-title":"Neurology"},{"key":"10.1016\/j.jpedcp.2024.200116_bib16","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1002\/jimd.12469","article-title":"Is the brain involved in patients with late-onset Pompe disease?","volume":"45","author":"van den Dorpel","year":"2022","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jpedcp.2024.200116_bib17","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1016\/j.clnu.2023.07.003","article-title":"Challenges in body composition assessment using air-displacement plethysmography by BOD POD in pediatric and young adult patients","volume":"42","author":"Bijlsma","year":"2023","journal-title":"Clin Nutr"},{"key":"10.1016\/j.jpedcp.2024.200116_bib18","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1007\/s11136-006-9157-1","article-title":"Feasibility, reliability, and validity of adolescent health status measurement by the Child Health Questionnaire Child Form (CHQ-CF): internet administration compared with the standard paper version","volume":"16","author":"Raat","year":"2007","journal-title":"Qual Life Res"},{"key":"10.1016\/j.jpedcp.2024.200116_bib19","doi-asserted-by":"crossref","first-page":"2165","DOI":"10.1007\/s11136-018-1873-9","article-title":"Giving voice to the child perspective: psychometrics and relative precision findings for the Child Health Questionnaire self-report short form (CHQ-CF45)","volume":"27","author":"Landgraf","year":"2018","journal-title":"Qual Life Res"},{"key":"10.1016\/j.jpedcp.2024.200116_bib20","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0178539","article-title":"Childhood chronic conditions and health-related quality of life: findings from a large population-based study","volume":"12","author":"Bai","year":"2017","journal-title":"PLoS One"},{"key":"10.1016\/j.jpedcp.2024.200116_bib21","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1007\/s11136-010-9836-9","article-title":"Fatigue in children: reliability and validity of the Dutch PedsQL\u2122 multidimensional fatigue scale","volume":"20","author":"Gordijn","year":"2011","journal-title":"Qual Life Res"},{"key":"10.1016\/j.jpedcp.2024.200116_bib22","doi-asserted-by":"crossref","first-page":"279","DOI":"10.4300\/JGME-D-12-00156.1","article-title":"Using effect size\u2014or why the P value is not enough","volume":"4","author":"Sullivan","year":"2012","journal-title":"J Grad Med Educ"},{"key":"10.1016\/j.jpedcp.2024.200116_bib23","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1186\/s12883-017-0983-2","article-title":"The humanistic burden of Pompe disease: are there still unmet needs? A systematic review","volume":"17","author":"Schoser","year":"2017","journal-title":"BMC Neurol"},{"key":"10.1016\/j.jpedcp.2024.200116_bib24","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s10545-015-9889-6","article-title":"Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up","volume":"39","author":"G\u00fcng\u00f6r","year":"2016","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jpedcp.2024.200116_bib25","doi-asserted-by":"crossref","first-page":"1688","DOI":"10.1212\/01.WNL.0000142597.69707.78","article-title":"Late-onset Pompe disease primarily affects quality of life in physical health domains","volume":"63","author":"Hagemans","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.jpedcp.2024.200116_bib26","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1146\/annurev.psych.52.1.83","article-title":"Adolescent development","volume":"52","author":"Steinberg","year":"2001","journal-title":"Annu Rev Psychol"},{"key":"10.1016\/j.jpedcp.2024.200116_bib27","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1177\/0883073810389043","article-title":"Quality of life in Duchenne muscular dystrophy: the subjective impact on children and parents","volume":"26","author":"Baiardini","year":"2011","journal-title":"J Child Neurol"},{"key":"10.1016\/j.jpedcp.2024.200116_bib28","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1111\/dmcn.14638","article-title":"Disparity of child\/parent-reported quality of life in cerebral palsy persists into adolescence","volume":"63","author":"Sentenac","year":"2021","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.jpedcp.2024.200116_bib29","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1097\/PEP.0000000000000638","article-title":"Health-related quality of life in children with chronic illness compared to parents: a systematic review","volume":"31","author":"Hall","year":"2019","journal-title":"Pediatr Phys Ther"},{"key":"10.1016\/j.jpedcp.2024.200116_bib30","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1007\/s00431-013-2049-9","article-title":"Health-related quality of life and symptom reporting: similarities and differences between children and their parents","volume":"172","author":"Eiser","year":"2013","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jpedcp.2024.200116_bib31","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1177\/0883073809357624","article-title":"Health-related quality of life in boys with Duchenne muscular dystrophy: agreement between parents and their sons","volume":"25","author":"Bray","year":"2010","journal-title":"J Child Neurol"},{"key":"10.1016\/j.jpedcp.2024.200116_bib32","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1186\/s12955-018-1062-0","article-title":"A review of quality of life themes in Duchenne muscular dystrophy for patients and carers","volume":"16","author":"Uttley","year":"2018","journal-title":"Health Qual Life Outcomes"},{"key":"10.1016\/j.jpedcp.2024.200116_bib33","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1007\/s11136-008-9350-5","article-title":"Parent-child agreement across child health-related quality of life instruments: a review of the literature","volume":"17","author":"Upton","year":"2008","journal-title":"Qual Life Res"},{"key":"10.1016\/j.jpedcp.2024.200116_bib34","doi-asserted-by":"crossref","first-page":"i37","DOI":"10.1136\/jech.2007.070797","article-title":"Assessing social-emotional development in children from a longitudinal perspective","volume":"63","author":"Denham","year":"2009","journal-title":"J Epidemiol Community Health"},{"key":"10.1016\/j.jpedcp.2024.200116_bib35","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1007\/s00415-006-0434-2","article-title":"Fatigue: an important feature of late-onset Pompe disease","volume":"254","author":"Hagemans","year":"2007","journal-title":"J Neurol"},{"key":"10.1016\/j.jpedcp.2024.200116_bib36","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1111\/dmcn.14248","article-title":"Fatigue in young people with Duchenne muscular dystrophy","volume":"62","author":"El-Aloul","year":"2020","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.jpedcp.2024.200116_bib37","doi-asserted-by":"crossref","first-page":"1662","DOI":"10.1007\/s00415-022-11506-z","article-title":"Diffusion tensor imaging of the brain in Pompe disease","volume":"270","author":"van den Dorpel","year":"2023","journal-title":"J Neurol"},{"key":"10.1016\/j.jpedcp.2024.200116_bib38","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.ymgme.2019.05.007","article-title":"White matter lesions in treated late onset Pompe disease are not different to matched controls","volume":"127","author":"Schneider","year":"2019","journal-title":"Mol Genet Metab"}],"container-title":["The Journal of Pediatrics: Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S295054102400022X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S295054102400022X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,13]],"date-time":"2024-12-13T23:52:47Z","timestamp":1734133967000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S295054102400022X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12]]},"references-count":38,"alternative-id":["S295054102400022X"],"URL":"https:\/\/doi.org\/10.1016\/j.jpedcp.2024.200116","relation":{},"ISSN":["2950-5410"],"issn-type":[{"type":"print","value":"2950-5410"}],"subject":[],"published":{"date-parts":[[2024,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Health-Related Quality of Life and Fatigue in Children with Pompe Disease","name":"articletitle","label":"Article Title"},{"value":"The Journal of Pediatrics: Clinical Practice","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpedcp.2024.200116","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"200116"}}