{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T15:11:21Z","timestamp":1771081881437,"version":"3.50.1"},"reference-count":25,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2013,6,1]],"date-time":"2013-06-01T00:00:00Z","timestamp":1370044800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2013,6]]},"DOI":"10.1016\/j.ymgme.2013.03.002","type":"journal-article","created":{"date-parts":[[2013,3,14]],"date-time":"2013-03-14T06:21:33Z","timestamp":1363242093000},"page":"171-173","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":46,"title":["Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia"],"prefix":"10.1016","volume":"109","author":[{"given":"Marco","family":"Spada","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Porta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liliana","family":"Vercelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronica","family":"Pagliardini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Loredana","family":"Chiad\u00f2-Piat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"Boffi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Severo","family":"Pagliardini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gauthier","family":"Remiche","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dario","family":"Ronchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giacomo","family":"Comi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiziana","family":"Mongini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2013.03.002_bb0005","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","article-title":"Pompe's disease","volume":"9646","author":"van der Ploeg","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.ymgme.2013.03.002_bb0010","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.c.31324","article-title":"The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management","volume":"160","author":"Kishnani","year":"2012","journal-title":"Am. J. Med. Genet. C. Semin. Med. Genet."},{"key":"10.1016\/j.ymgme.2013.03.002_bb0015","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1016\/j.ymgme.2012.10.001","article-title":"Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe's disease","volume":"107","author":"Spada","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2013.03.002_bb0020","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.ymgme.2013.03.002_bb0025","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.ymgme.2013.03.002_bb0030","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1542\/peds.2008-3667","article-title":"Pompe disease in infants: improving the prognosis by newborn screening and early treatment","volume":"124","author":"Chien","year":"2009","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2013.03.002_bb0035","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1542\/peds.2007-2222","article-title":"Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program","volume":"122","author":"Chien","year":"2008","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2013.03.002_bb0040","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/S0140-6736(11)61266-X","article-title":"Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria","volume":"9813","author":"Mechtler","year":"2012","journal-title":"Lancet"},{"key":"10.1016\/j.ymgme.2013.03.002_bb0045","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.ymgme.2011.01.006","article-title":"Improved assay for differential diagnosis between Pompe disease and acid \u03b1-glucosidase pseudodeficiency on dried blood spots","volume":"103","author":"Shigeto","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2013.03.002_bb0050","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 hyperCKemia","volume":"66","author":"Fernandez","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2013.03.002_bb0055","first-page":"S1","article-title":"A simple and rapid approach for screening lysosomal storage disorders","volume":"26","author":"Pagliardini","year":"2003","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2013.03.002_bb0135","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.ymgme.2007.09.006","article-title":"Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting","volume":"93","author":"Pompe Disease Diagnostic Working Group","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2013.03.002_bb0070","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1002\/mus.880160614","article-title":"Adult acid maltase deficiency","volume":"16","author":"Barohn","year":"1993","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ymgme.2013.03.002_bb0075","doi-asserted-by":"crossref","first-page":"2231","DOI":"10.1093\/hmg\/3.12.2231","article-title":"Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (\u221213T\u2192G) mutation in a majority of patients and a novel IVS10 (+1GT\u2192CT) mutation","volume":"3","author":"Huie","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2013.03.002_bb0080","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1002\/humu.22108","article-title":"Update of the Pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants","volume":"33","author":"Kroos","year":"2012","journal-title":"Hum. Mutat."},{"issue":"Suppl. 2","key":"10.1016\/j.ymgme.2013.03.002_bb0140","doi-asserted-by":"crossref","first-page":"S261","DOI":"10.1007\/s10545-008-0820-2","article-title":"Molecular diagnosis of German patients with late-onset glycogen storage disease type II","author":"Joshi","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2013.03.002_bb0090","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1186\/1750-1172-7-35","article-title":"A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype\u2013phenotype correlations","volume":"7","author":"Herzog","year":"2012","journal-title":"Orphanet J. Rare. Dis."},{"key":"10.1016\/j.ymgme.2013.03.002_bb0095","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"},{"key":"10.1016\/j.ymgme.2013.03.002_bb0100","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1007\/s10072-006-0701-0","article-title":"High plasma creatine kinase: review of the literature and proposal for a diagnostic algorithm","volume":"27","author":"Morandi","year":"2006","journal-title":"Neurol. Sci."},{"key":"10.1016\/j.ymgme.2013.03.002_bb0105","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1111\/j.1468-1331.2010.03012.x","article-title":"EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia","volume":"17","author":"Kyriakides","year":"2010","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.ymgme.2013.03.002_bb0110","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.ymgme.2013.03.002_bb0115","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.ymgme.2007.10.010","article-title":"In vivo specific reduction of arylsulfatase B enzymatic activity in children with cystic fibrosis","volume":"94","author":"Ferrero","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2013.03.002_bb0120","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1016\/j.ymgme.2011.01.014","article-title":"Lysosomal enzyme activities in phenylketonuria","volume":"102","author":"Porta","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2013.03.002_bb0125","first-page":"887","article-title":"Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II","volume":"56","author":"Boerkoel","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2013.03.002_bb0130","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.\u221232\u221213T\u2192G haplotype","volume":"68","author":"Kroos","year":"2007","journal-title":"Neurology"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719213000917?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719213000917?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,17]],"date-time":"2018-10-17T23:30:16Z","timestamp":1539819016000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719213000917"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6]]},"references-count":25,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["S1096719213000917"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2013.03.002","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2013,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2013.03.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}