{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T01:43:16Z","timestamp":1791078196081,"version":"4.1.0"},"reference-count":20,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2008,4,1]],"date-time":"2008-04-01T00:00:00Z","timestamp":1207008000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Revue Neurologique"],"published-print":{"date-parts":[[2008,4]]},"DOI":"10.1016\/j.neurol.2007.09.008","type":"journal-article","created":{"date-parts":[[2008,4,18]],"date-time":"2008-04-18T16:01:36Z","timestamp":1208534496000},"page":"336-342","source":"Crossref","is-referenced-by-count":4,"title":["Forme adulte de la maladie de Pompe\u00a0: \u00e0 propos de six cas de la r\u00e9gion du Languedoc-Roussillon"],"prefix":"10.1016","volume":"164","author":[{"given":"A.","family":"Saux","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Laforet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.M.","family":"Pag\u00e8s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Figarella-Branger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.-F.","family":"Pellissier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Pag\u00e8s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Labauge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.neurol.2007.09.008_bib1","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.neurol.2007.09.008_bib2","doi-asserted-by":"crossref","first-page":"1585","DOI":"10.1212\/01.wnl.0000216144.69630.6e","article-title":"Diagnostic evaluation of clinically normal subjects with chronic hyper-Ckemia","volume":"66","author":"Fernandez","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.neurol.2007.09.008_bib3","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/s10545-006-0265-4","article-title":"Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders","volume":"29","author":"Gelb","year":"2006","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.neurol.2007.09.008_bib4","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.neurol.2007.09.008_bib5","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1093\/brain\/awh384","article-title":"Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients","volume":"128","author":"Hagemans","year":"2005","journal-title":"Brain"},{"key":"10.1016\/j.neurol.2007.09.008_bib6","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1042\/bj0860011","article-title":"Alpha-glucosidase deficiency in generalised glycogen-storage disease (Pompe's Disease)","volume":"86","author":"Hers","year":"1963","journal-title":"Biochem J"},{"key":"10.1016\/j.neurol.2007.09.008_bib7","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1042\/bj2720493","article-title":"Characterization of the human lysosomal alpha-glucosidase gene","volume":"272","author":"Hoefsloot","year":"1990","journal-title":"Biochem J"},{"key":"10.1016\/j.neurol.2007.09.008_bib8","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1093\/brain\/91.3.435","article-title":"Adult myopathy from glycogen storage disease due to acid maltase deficiency","volume":"91","author":"Hudgson","year":"1968","journal-title":"Brain"},{"key":"10.1016\/j.neurol.2007.09.008_bib9","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.neurol.2007.09.008_bib10","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 in patient 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.neurol.2007.09.008_bib11","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.-32-13T>G haplotype","volume":"68","author":"Kroos","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.neurol.2007.09.008_bib12","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1136\/jmg.32.10.836-a","article-title":"Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients","volume":"32","author":"Kroos","year":"1995","journal-title":"J Med Genet"},{"key":"10.1016\/j.neurol.2007.09.008_bib13","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\u2013phenotype correlation","volume":"55","author":"Laforet","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.neurol.2007.09.008_bib14","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1089\/dna.1991.10.283","article-title":"Isolation and partial characterization of the structural gene for human acid alpha glucosidase","volume":"10","author":"Martiniuk","year":"1991","journal-title":"DNA Cell Biol"},{"key":"10.1016\/j.neurol.2007.09.008_bib15","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.neurol.2007.09.008_bib16","first-page":"304","article-title":"Over idiopathische hypertrophie van het hart","volume":"76","author":"Pompe","year":"1932","journal-title":"Ned Tijdschr Geneeskd"},{"key":"10.1016\/j.neurol.2007.09.008_bib17","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 litterature","volume":"112","author":"Van den Hout","year":"2003","journal-title":"Pediatrics"},{"key":"10.1016\/j.neurol.2007.09.008_bib18","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1007\/s00415-005-0922-9","article-title":"The natural course of non-classic Pompe's disease; a review of 225 published cases","volume":"252","author":"Winkel","year":"2005","journal-title":"J Neurol"},{"key":"10.1016\/j.neurol.2007.09.008_bib19","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1002\/ana.20019","article-title":"Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up","volume":"55","author":"Winkel","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1016\/j.neurol.2007.09.008_bib20","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1002\/ana.410380316","article-title":"Genotype-phenotype correlation in adult-onset acid maltase deficiency","volume":"3","author":"Wokke","year":"1995","journal-title":"Ann Neurol"}],"container-title":["Revue Neurologique"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0035378708000489?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0035378708000489?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,29]],"date-time":"2018-12-29T19:55:27Z","timestamp":1546113327000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0035378708000489"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,4]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,4]]}},"alternative-id":["S0035378708000489"],"URL":"https:\/\/doi.org\/10.1016\/j.neurol.2007.09.008","relation":{},"ISSN":["0035-3787"],"issn-type":[{"value":"0035-3787","type":"print"}],"subject":[],"published":{"date-parts":[[2008,4]]}}}