{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T09:44:42Z","timestamp":1766137482001,"version":"build-2065373602"},"reference-count":23,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.1016\/j.ejmg.2020.103997","type":"journal-article","created":{"date-parts":[[2020,7,22]],"date-time":"2020-07-22T12:09:04Z","timestamp":1595419744000},"page":"103997","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease"],"prefix":"10.1016","volume":"63","author":[{"given":"Xueying","family":"Su","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huiying","family":"Sheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"yonglan","family":"huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiuzhen","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoyuan","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cuiling","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2020.103997_bib1","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1086\/301788","article-title":"The African origin of the common mutation in African American patients with glycogen-storage disease type II","volume":"62","author":"Becker","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2020.103997_bib2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgme.2011.02.004","article-title":"Pompe disease: design, methodology, and early findings from the Pompe Registry","volume":"103","author":"Byrne","year":"2011","journal-title":"Mol. Genet. Metabol."},{"key":"10.1016\/j.ejmg.2020.103997_bib3","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1089\/gtmb.2016.0424","article-title":"Clinical and molecular characterization of infantile-onset Pompe disease in mainland Chinese patients: identification of two common mutations","volume":"21","author":"Chen","year":"2017","journal-title":"Genet. Test. Mol. Biomarkers"},{"key":"10.1016\/j.ejmg.2020.103997_bib4","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.cca.2013.10.013","article-title":"Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease","volume":"429","author":"Er","year":"2014","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ejmg.2020.103997_bib5","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.gene.2013.10.066","article-title":"Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations","volume":"535","author":"Fu","year":"2014","journal-title":"Gene"},{"key":"10.1016\/j.ejmg.2020.103997_bib6","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.resp.2013.06.007","article-title":"The respiratory neuromuscular system in Pompe disease","volume":"189","author":"Fuller","year":"2013","journal-title":"Respir. Physiol. Neurobiol."},{"key":"10.1016\/j.ejmg.2020.103997_bib7","doi-asserted-by":"crossref","first-page":"283","DOI":"10.21037\/atm.2019.04.70","article-title":"Long-term outcome and unmet needs in infantile-onset Pompe disease","volume":"7","author":"Hahn","year":"2019","journal-title":"Ann. Transl. Med."},{"key":"10.1016\/j.ejmg.2020.103997_bib8","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.ejmg.2020.103997_bib9","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1097\/01.gim.0000217785.19262.9e","article-title":"The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease","volume":"8","author":"Jack","year":"2006","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2020.103997_bib10","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.ejmg.2020.103997_bib11","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.ejmg.2020.103997_bib12","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. Metabol."},{"key":"10.1016\/j.ejmg.2020.103997_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-phenotype correlation","volume":"55","author":"Laforet","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.ejmg.2020.103997_bib14","doi-asserted-by":"crossref","first-page":"177","DOI":"10.3389\/fnagi.2014.00177","article-title":"Pompe disease: from pathophysiology to therapy and back again","volume":"6","author":"Lim","year":"2014","journal-title":"Front. Aging Neurosci."},{"key":"10.1016\/j.ejmg.2020.103997_bib15","first-page":"440","article-title":"Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower \"affinity\" for glycogen (GAA 2) and transient gene expression in deficient cells","volume":"47","author":"Martiniuk","year":"1990","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2020.103997_bib16","doi-asserted-by":"crossref","first-page":"1881","DOI":"10.1007\/s00415-009-5219-y","article-title":"Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations","volume":"256","author":"Oba-Shinjo","year":"2009","journal-title":"J. Neurol."},{"key":"10.1016\/j.ejmg.2020.103997_bib17","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.ymgme.2005.10.016","article-title":"A new diagnostic assay for glycogen storage disease type II in mixed leukocytes","volume":"88","author":"Okumiya","year":"2006","journal-title":"Mol. Genet. Metabol."},{"key":"10.1016\/j.ejmg.2020.103997_bib18","doi-asserted-by":"crossref","first-page":"278","DOI":"10.21037\/atm.2019.04.13","article-title":"Molecular genetics of Pompe disease: a comprehensive overview","volume":"7","author":"Peruzzo","year":"2019","journal-title":"Ann. Transl. Med."},{"key":"10.1016\/j.ejmg.2020.103997_bib19","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<306::AID-HUMU8>3.0.CO;2-S","article-title":"Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect","volume":"11","author":"Shieh","year":"1998","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2020.103997_bib20","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.gene.2015.02.023","article-title":"Novel GAA mutations in patients with Pompe disease","volume":"561","author":"Turaca","year":"2015","journal-title":"Gene"},{"key":"10.1016\/j.ejmg.2020.103997_bib21","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.ejmg.2020.103997_bib22","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.ejmg.2020.103997_bib23","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.ymgme.2011.06.010","article-title":"Rapid progressive course of later-onset Pompe disease in Chinese patients","volume":"104","author":"Yang","year":"2011","journal-title":"Mol. Genet. Metabol."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721219305774?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721219305774?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:51:55Z","timestamp":1761709915000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721219305774"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":23,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["S1769721219305774"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.103997","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2020,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.103997","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"103997"}}