{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:55:21Z","timestamp":1761101721540},"reference-count":19,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2004,11,1]],"date-time":"2004-11-01T00:00:00Z","timestamp":1099267200000},"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":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2004,11]]},"DOI":"10.1016\/j.ymgme.2004.07.017","type":"journal-article","created":{"date-parts":[[2004,9,17]],"date-time":"2004-09-17T15:08:02Z","timestamp":1095433682000},"page":"271-275","source":"Crossref","is-referenced-by-count":19,"title":["DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese"],"prefix":"10.1016","volume":"83","author":[{"given":"Ching-Wan","family":"Lam","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allen Ting-Chun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuen-Yu","family":"Lam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tak-Wai","family":"Wong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tony Wing-Lai","family":"Mak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wai-Ching","family":"Fung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kwok-Chiu","family":"Chan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Che-Shun","family":"Ho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sui-Fan","family":"Tong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2004.07.017_bib1","first-page":"97","article-title":"Preparation and properties of the glycogen-debranching enzyme from rabbit liver","volume":"289","author":"Gordon","year":"1972","journal-title":"Biochem. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2004.07.017_bib2","first-page":"274","article-title":"Re-evaluation of the subunit structure and molecular weight of rabbit muscle amylo-1,6-glucosidase-4-alpha-glucanotransferase","volume":"365","author":"White","year":"1974","journal-title":"Biochem. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2004.07.017_bib3","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/0014-5793(75)80254-7","article-title":"Debranching enzyme from rabbit skeletal muscle; evidence for the location of two active centres on a single polypeptide chain","volume":"58","author":"Bates","year":"1975","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ymgme.2004.07.017_bib4","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1111\/j.1432-1033.1975.tb03911.x","article-title":"Debranching enzyme from rabbit skeletal muscle. Purification, properties and physiological role","volume":"51","author":"Taylor","year":"1975","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.ymgme.2004.07.017_bib5","doi-asserted-by":"crossref","first-page":"896","DOI":"10.7326\/0003-4819-116-11-896","article-title":"Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy","volume":"116","author":"Coleman","year":"1992","journal-title":"Ann. Intern. Med."},{"key":"10.1016\/j.ymgme.2004.07.017_bib6","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1172\/JCI118799","article-title":"Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle","volume":"98","author":"Shen","year":"1996","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2004.07.017_bib7","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1111\/j.1432-1033.1967.tb00134.x","article-title":"The subgroups of type III glycogenosis","volume":"2","author":"Van Hoof","year":"1976","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.ymgme.2004.07.017_bib8","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/S0022-3476(05)81652-X","article-title":"Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III","volume":"116","author":"Ding","year":"1990","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2004.07.017_bib9","doi-asserted-by":"crossref","first-page":"9294","DOI":"10.1016\/S0021-9258(19)50422-7","article-title":"Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme","volume":"267","author":"Yang","year":"1992","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2004.07.017_bib10","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1016\/0888-7543(92)90003-B","article-title":"Assignment of the human glycogen debrancher gene to chromosome 1p21","volume":"13","author":"Yang-Feng","year":"1992","journal-title":"Genomics"},{"key":"10.1016\/j.ymgme.2004.07.017_bib11","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1006\/geno.1996.0611","article-title":"Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5\u2032 flanking region","volume":"38","author":"Bao","year":"1996","journal-title":"Genomics"},{"key":"10.1016\/j.ymgme.2004.07.017_bib12","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/S0378-1119(97)00291-6","article-title":"Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms","volume":"197","author":"Bao","year":"1997","journal-title":"Gene"},{"key":"10.1016\/j.ymgme.2004.07.017_bib13","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1002\/1096-8628(20000731)93:3<211::AID-AJMG10>3.0.CO;2-Z","article-title":"Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin","volume":"93","author":"Okubo","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2004.07.017_bib14","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1007\/s100380200000","article-title":"Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III","volume":"47","author":"Horinishi","year":"2002","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2004.07.017_bib15","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1159\/000484776","article-title":"A single-base deletion in the 3\u2032-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients","volume":"5","author":"Parvari","year":"1997","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2004.07.017_bib16","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/ajmg.10347","article-title":"Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area","volume":"109","author":"Lucchiari","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2004.07.017_bib17","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1038\/sj.ejhg.5200632","article-title":"Molecular genetic basis and prevalence of glycogen storage disease type IIIa in the Faroe Islands","volume":"9","author":"Santer","year":"2001","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2004.07.017_bib18","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/(SICI)1097-0223(199801)18:1<61::AID-PD223>3.0.CO;2-I","article-title":"Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers","volume":"18","author":"Shen","year":"1998","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.ymgme.2004.07.017_bib19","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/BF00278187","article-title":"The CpG dinucleotide and human genetic disease","volume":"78","author":"Cooper","year":"1988","journal-title":"Hum. Genet."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719204002070?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719204002070?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,6,25]],"date-time":"2021-06-25T19:43:53Z","timestamp":1624650233000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719204002070"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,11]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,11]]}},"alternative-id":["S1096719204002070"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2004.07.017","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2004,11]]}}}