{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T00:41:40Z","timestamp":1773880900141,"version":"3.50.1"},"reference-count":45,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T00:00:00Z","timestamp":1519862400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T00:00:00Z","timestamp":1519862400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2017,10,18]],"date-time":"2017-10-18T00:00:00Z","timestamp":1508284800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["17gk0110016h0002"],"award-info":[{"award-number":["17gk0110016h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2018,3]]},"DOI":"10.1016\/j.ymgmr.2017.10.009","type":"journal-article","created":{"date-parts":[[2017,10,31]],"date-time":"2017-10-31T12:02:20Z","timestamp":1509451340000},"page":"3-9","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"special_numbering":"C","title":["A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan"],"prefix":"10.1016","volume":"14","author":[{"given":"Yasuyuki","family":"Fukuhara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoko","family":"Fuji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Narutoshi","family":"Yamazaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asami","family":"Hirakiyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuharu","family":"Kamioka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1559-1272","authenticated-orcid":false,"given":"Joo-Hyun","family":"Seo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryuichi","family":"Mashima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Motomichi","family":"Kosuga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Torayuki","family":"Okuyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgmr.2017.10.009_bb0005","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","volume":"vol. 8","author":"Hirschhorn","year":"2001"},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0010","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.ymgmr.2017.10.009_bb0015","series-title":"GeneReviewR [Internet]","year":"1993"},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0020","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.ymgmr.2017.10.009_bb0025","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 mild","volume":"113","author":"van der Hout","year":"2004","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0030","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1097\/01.gim.0000204462.42910.b8","article-title":"Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome","volume":"8","author":"Howell","year":"2006","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0035","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."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0040","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.ymgmr.2017.10.009_bb0045","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 dour Ploeg","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0050","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.cccn.2004.04.009","article-title":"Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper","volume":"347","author":"Chamoles","year":"2004","journal-title":"Clin. Chem. Acta"},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0055","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1097\/01.gim.0000217781.66786.9b","article-title":"Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease","volume":"8","author":"Zhang","year":"2006","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0060","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/j.ymgme.2006.12.006","article-title":"Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots","volume":"90","author":"Kallwass","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0065","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 B. Winchester","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0070","doi-asserted-by":"crossref","first-page":"e39","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.ymgmr.2017.10.009_bb0075","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.ymgmr.2017.10.009_bb0080","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":"Lafor\u00eat","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0085","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.ymgmr.2017.10.009_bb0090","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 typeII","volume":"27","author":"Montalvo","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0095","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.ymgme.2007.05.011","article-title":"Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1GC mutation","volume":"92","author":"Gort","year":"2007","journal-title":"Mol. Genet. Metab."},{"issue":"Suppl. 2","key":"10.1016\/j.ymgmr.2017.10.009_bb0100","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/s10545-008-0820-2","article-title":"Molecular diagnosis of German patients with late-onset glycogen storage disease type II","volume":"31","author":"Joshi","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0105","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->G) mutation in a majority of patients and a novel IVS10 (+1GT->CT) mutation","volume":"3","author":"Huie","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0110","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.ymgme.2011.06.010","article-title":"Rapid progressive course of late-onset Pompe disease in Chinese patients","volume":"104","author":"Yang","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0115","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1186\/s12881-014-0141-2","article-title":"Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G>C as the most common mutation","volume":"15","author":"Liu","year":"2014","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0120","first-page":"311","article-title":"Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients","volume":"43","author":"Hyung-Doo","year":"2013","journal-title":"Ann. Clin. Lab. Sci."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0125","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1007\/s10038-007-0191-9","article-title":"Structural and biochemical studies on Pompe disease and a \u201cpseudodeficiency of acid alpha-glucosidase\u201d","volume":"52","author":"Tajima","year":"2007","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0130","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/j.ymgme.2009.12.014","article-title":"Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program","volume":"99","author":"Labrousse","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0135","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1016\/j.ymgme.2011.09.002","article-title":"Newborn screening for Pompe disease in Japan","volume":"104","author":"Oda","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0140","doi-asserted-by":"crossref","first-page":"361","DOI":"10.20344\/amp.180","article-title":"Juvenile pompe disease: retrospective clinical study","volume":"26","author":"Loureiro Neves","year":"2013","journal-title":"Acta. Med. Port."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0145","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1086\/301788","article-title":"The African origin of the common mutation in African patients with glycogen-storage disease type II","volume":"62","author":"Becker","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb5150","first-page":"39","article-title":"Identification and functional characterization of GAA mutations in Colombian patients affected by Pompe disease","volume":"7","author":"Ni\u00f1o","year":"2013","journal-title":"J. Inherit. Metab. Dis. Rep."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0155","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-phenotype correlations","volume":"7","author":"Herzog","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0160","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1186\/s13023-016-0442-y","article-title":"Childhood Pompe disease: clinical spectrum and genotype in 31 patients","volume":"11","author":"van Capelle","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0165","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/humu.10286","article-title":"Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II","volume":"23","author":"Hermans","year":"2004","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0170","doi-asserted-by":"crossref","first-page":"1689","DOI":"10.1172\/JCI113008","article-title":"Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts","volume":"79","author":"Reuser","year":"1987","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0175","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.ymgmr.2017.10.009_bb0180","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-014-0102-z","article-title":"Genotype-phenotype correlation in Pompe disease, a step forward","volume":"9","author":"De Filippi","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0185","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/S0960-8966(01)00247-4","article-title":"Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)","volume":"12","author":"Fernandez-Hojas","year":"2002","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0190","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/j.ymgme.2007.07.006","article-title":"Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II","volume":"92","author":"McCready","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0195","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1002\/(SICI)1098-1004(1999)13:5<380::AID-HUMU6>3.0.CO;2-A","article-title":"Molecular genetic study of Pompe disease in Chinese patients in Taiwan","volume":"13","author":"Ko","year":"1999","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0200","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/s100480050030","article-title":"Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients","volume":"1","author":"Vorgerd","year":"1998","journal-title":"Neurogenetics"},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0205","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1016\/j.nmd.2007.06.002","article-title":"Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients","volume":"17","author":"M\u00fcller-Felber","year":"2007","journal-title":"Neuromuscul Disord."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0210","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1038\/ejhg.2008.34","article-title":"p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?","volume":"16","author":"Kroos","year":"2008","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0215","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.ymgmr.2017.10.009_bb0220","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1007\/s10038-007-0191-9","article-title":"Structural and biochemical studies on Pompe disease and a \u201cpseudodeficiency of acid alpha-glucosidase\u201d","volume":"52","author":"Tajima","year":"2007","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.ymgmr.2017.10.009_bb0225","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.ymgme.2009.03.004","article-title":"High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population","volume":"97","author":"Kumamoto","year":"2009","journal-title":"Mol. Genet. Metab."}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426917301519?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426917301519?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:49:30Z","timestamp":1762001370000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426917301519"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3]]},"references-count":45,"alternative-id":["S2214426917301519"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2017.10.009","relation":{},"ISSN":["2214-4269"],"issn-type":[{"value":"2214-4269","type":"print"}],"subject":[],"published":{"date-parts":[[2018,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2017.10.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}