{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T12:01:35Z","timestamp":1762430495619,"version":"build-2065373602"},"reference-count":45,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"crossref","award":["F2\/2008"],"award-info":[{"award-number":["F2\/2008"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"crossref"}]},{"name":"ZonMw \u2013Dutch organization for healthcare research and innovation of care","award":["152001005"],"award-info":[{"award-number":["152001005"]}]},{"name":"The Prinses Beatrix Fund"}],"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":[[2010,12]]},"DOI":"10.1016\/j.nmd.2010.07.277","type":"journal-article","created":{"date-parts":[[2010,9,3]],"date-time":"2010-09-03T05:57:08Z","timestamp":1283493428000},"page":"775-782","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":50,"title":["Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study"],"prefix":"10.1016","volume":"20","author":[{"given":"C.I.","family":"van Capelle","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.A.M.E.","family":"van der Beek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.L.C.","family":"Hagemans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.F.M.","family":"Arts","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.C.J.","family":"Hop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Jaeken","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.M.E.","family":"Frohn-Mulder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.J.F.M.","family":"Merkus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Corzo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.C.","family":"Puga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.J.","family":"Reuser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.T.","family":"van der Ploeg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2010.07.277_b0005","series-title":"The metabolic and molecular bases of inherited disease","first-page":"3389","article-title":"Glycogen storage disease type II: acid \u03b1-glucosidase (acid maltase) deficiency","author":"Hirschhorn","year":"2001"},{"key":"10.1016\/j.nmd.2010.07.277_b0010","series-title":"Myology: basic and clinical","first-page":"1533","article-title":"Acid maltase deficiency","author":"Engel","year":"1994"},{"key":"10.1016\/j.nmd.2010.07.277_b0015","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1038\/labinvest.3700484","article-title":"Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease","volume":"86","author":"Thurberg","year":"2006","journal-title":"Lab Invest"},{"key":"10.1016\/j.nmd.2010.07.277_b0020","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1002\/ana.20807","article-title":"Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease","volume":"59","author":"Fukuda","year":"2006","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2010.07.277_b0025","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1093\/brain\/awh384","article-title":"Clinical manifestation and natural course of late-onset Pompe\u2019s disease in 54 Dutch patients","volume":"128","author":"Hagemans","year":"2005","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2010.07.277_b0030","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1007\/s00415-005-0922-9","article-title":"The natural course of non-classic Pompe\u2019s disease; a review of 225 published cases","volume":"252","author":"Winkel","year":"2005","journal-title":"J Neurol"},{"key":"10.1016\/j.nmd.2010.07.277_b0035","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1542\/peds.112.2.332","article-title":"The natural course of infantile Pompe\u2019s 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.nmd.2010.07.277_b0040","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.nmd.2010.07.277_b0045","doi-asserted-by":"crossref","first-page":"2139","DOI":"10.1212\/01.WNL.0000165979.46537.56","article-title":"Disease severity in children and adults with Pompe disease related to age and disease duration","volume":"64","author":"Hagemans","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2010.07.277_b0050","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1212\/01.wnl.0000198776.53007.2c","article-title":"Course of disability and respiratory function in untreated late-onset Pompe disease","volume":"66","author":"Hagemans","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2010.07.277_b0055","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1212\/WNL.55.8.1122","article-title":"Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation","volume":"55","author":"Laforet","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2010.07.277_b0060","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1067\/mpd.2000.107112","article-title":"Identification of two subtypes of infantile acid maltase deficiency","volume":"137","author":"Slonim","year":"2000","journal-title":"J Pediatr"},{"key":"10.1016\/j.nmd.2010.07.277_b0065","doi-asserted-by":"crossref","first-page":"S61","DOI":"10.1002\/mus.880181414","article-title":"Glycogenosis type II (acid maltase deficiency)","volume":"3","author":"Reuser","year":"1995","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2010.07.277_b0070","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.nmd.2010.07.277_b0075","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1023\/A:1010383421286","article-title":"Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk","volume":"24","author":"Van den Hout","year":"2001","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.nmd.2010.07.277_b0080","first-page":"132","article-title":"Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I\/II clinical trial","volume":"3","author":"Amalfitano","year":"2001","journal-title":"Genet Med"},{"key":"10.1016\/j.nmd.2010.07.277_b0085","doi-asserted-by":"crossref","first-page":"e448","DOI":"10.1542\/peds.113.5.e448","article-title":"Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk","volume":"113","author":"Van den Hout","year":"2004","journal-title":"Pediatrics"},{"key":"10.1016\/j.nmd.2010.07.277_b0090","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1055\/s-2005-837543","article-title":"Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study","volume":"36","author":"Klinge","year":"2005","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.nmd.2010.07.277_b0095","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.nmd.2004.10.009","article-title":"Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial","volume":"15","author":"Klinge","year":"2005","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2010.07.277_b0100","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.jpeds.2006.02.035","article-title":"Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease","volume":"149","author":"Kishnani","year":"2006","journal-title":"J Pediatr"},{"key":"10.1016\/j.nmd.2010.07.277_b0105","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1212\/01.wnl.0000251268.41188.04","article-title":"Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease","volume":"68","author":"Kishnani","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2010.07.277_b0110","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/s00415-009-5275-3","article-title":"Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial","volume":"257","author":"Strothotte","year":"2010","journal-title":"J Neurol"},{"key":"10.1016\/j.nmd.2010.07.277_b0115","doi-asserted-by":"crossref","unstructured":"Lung function testing: selection of reference values and interpretative strategies. American Thoracic Society. Am Rev Respir Dis 1991;144:1202\u201318.","DOI":"10.1164\/ajrccm\/144.5.1202"},{"key":"10.1016\/j.nmd.2010.07.277_b0120","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.nmd.2008.11.007","article-title":"Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease","volume":"19","author":"Van der Beek","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2010.07.277_b0125","unstructured":"Tindall B. Aids to the investigation of the peripheral nervous system. In: Medical Research Council, 1986."},{"key":"10.1016\/j.nmd.2010.07.277_b0130","unstructured":"van der Ploeg RJO. Hand-held dynamometry. In: Department of Neurology. Rijksuniversiteit Groningen, Groningen;1992, p. 92."},{"key":"10.1016\/j.nmd.2010.07.277_b0135","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/S0960-8966(01)00193-6","article-title":"Reference values of maximum isometric muscle force obtained in 270 children aged 4\u201316 years by hand-held dynamometry","volume":"11","author":"Beenakker","year":"2001","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2010.07.277_b0140","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1136\/jnnp.54.3.244","article-title":"Hand-held myometry: reference values","volume":"54","author":"van der Ploeg","year":"1991","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.nmd.2010.07.277_b0145","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"},{"key":"10.1016\/j.nmd.2010.07.277_b0150","doi-asserted-by":"crossref","unstructured":"ATS statement: guidelines for the six-minute walk test. Am J Respir Crit Care Med 2002;166:111\u20137.","DOI":"10.1164\/ajrccm.166.1.at1102"},{"key":"10.1016\/j.nmd.2010.07.277_b0155","unstructured":"van Capelle CI, van der Beek NAME, Gadiot RPM, et al. Construction and validation of a muscle function scale for Pompe disease: the Quick Motor Function Test, submitted for publication, 2010."},{"key":"10.1016\/j.nmd.2010.07.277_b0160","doi-asserted-by":"crossref","unstructured":"ATS\/ERS Statement on respiratory muscle testing. Am J Respir Crit Care Med 2002;166:518\u2013624.","DOI":"10.1164\/rccm.166.4.518"},{"key":"10.1016\/j.nmd.2010.07.277_b0165","first-page":"407","article-title":"Spirometry in normal subjects in sitting, prone, and supine positions","volume":"45","author":"Vilke","year":"2000","journal-title":"Respir Care"},{"key":"10.1016\/j.nmd.2010.07.277_b0170","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1007\/BF00421645","article-title":"Validation of two running tests as estimates of maximal aerobic power in children","volume":"55","author":"van Mechelen","year":"1986","journal-title":"Eur J Appl Physiol Occup Physiol"},{"key":"10.1016\/j.nmd.2010.07.277_b0175","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/j.ejpn.2005.06.004","article-title":"Functional ability and muscle force in healthy children and ambulant Duchenne muscular dystrophy patients","volume":"9","author":"Beenakker","year":"2005","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.nmd.2010.07.277_b0180","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1183\/09031936.05.00020005","article-title":"Respiratory insufficiency and limb muscle weakness in adults with Pompe\u2019s disease","volume":"26","author":"Pellegrini","year":"2005","journal-title":"Eur Respir J"},{"key":"10.1016\/j.nmd.2010.07.277_b0185","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1212\/01.WNL.0000158682.85052.C0","article-title":"Respiratory failure in Pompe disease: treatment with noninvasive ventilation","volume":"64","author":"Mellies","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2010.07.277_b0190","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1002\/ana.410380316","article-title":"Genotype-phenotype correlation in adult-onset acid maltase deficiency","volume":"38","author":"Wokke","year":"1995","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2010.07.277_b0195","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1212\/01.wnl.0000252798.25690.76","article-title":"Broad spectrum of Pompe disease in patients with the same c.-32\u201313T->G haplotype","volume":"68","author":"Kroos","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2010.07.277_b0200","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1002\/humu.20374","article-title":"Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II","volume":"27","author":"Montalvo","year":"2006","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2010.07.277_b0205","doi-asserted-by":"crossref","first-page":"S83","DOI":"10.1212\/WNL.47.4_Suppl_2.83S","article-title":"Development of measurement techniques","volume":"47","author":"Munsat","year":"1996","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2010.07.277_b0210","first-page":"19","article-title":"Physical examination \u2013 measurement of muscle strength","volume":"145","author":"van der Ploeg","year":"2001","journal-title":"Ned Tijdschr Geneeskd"},{"key":"10.1016\/j.nmd.2010.07.277_b0215","first-page":"1063","article-title":"Relationship between two measures of upper extremity strength: manual muscle test compared to hand-held myometry","volume":"73","author":"Schwartz","year":"1992","journal-title":"Arch Phys Med Rehabil"},{"key":"10.1016\/j.nmd.2010.07.277_b0220","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1002\/mus.1070","article-title":"Clinical evaluator reliability for quantitative and manual muscle testing measures of strength in children","volume":"24","author":"Escolar","year":"2001","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2010.07.277_b0225","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/j.nmd.2008.04.009","article-title":"Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease","volume":"18","author":"van Capelle","year":"2008","journal-title":"Neuromuscul Disord"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896610005729?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896610005729?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:58:22Z","timestamp":1760774302000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896610005729"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,12]]},"references-count":45,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["S0960896610005729"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2010.07.277","relation":{},"ISSN":["0960-8966"],"issn-type":[{"type":"print","value":"0960-8966"}],"subject":[],"published":{"date-parts":[[2010,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2010.07.277","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}