{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T09:52:41Z","timestamp":1790675561389,"version":"4.1.0"},"reference-count":23,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2000,1]]},"DOI":"10.1006\/mgme.1999.2953","type":"journal-article","created":{"date-parts":[[2002,9,18]],"date-time":"2002-09-18T15:46:30Z","timestamp":1032363990000},"page":"16-23","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":32,"title":["Genotype-Phenotype Correlation in Two Frequent Mutations and Mutation Update in Type III Glycogen Storage Disease"],"prefix":"10.1006","volume":"69","author":[{"given":"Wen-Ling","family":"Shaiu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya S.","family":"Kishnani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianjun","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui-Ming","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan-Tsong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1006\/mgme.1999.2953_RF1","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":"10.1006\/mgme.1999.2953_RF2","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/0005-2795(74)90271-2","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":"Biochim Biophys Acta"},{"key":"10.1006\/mgme.1999.2953_RF3","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":"10.1006\/mgme.1999.2953_RF4","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":"10.1006\/mgme.1999.2953_RF5","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/0005-2744(72)90112-X","article-title":"Preparation and properties of the glycogen-debranching enzyme from rabbit liver","volume":"289","author":"Gordon","year":"1972","journal-title":"Biochim Biophys Acta"},{"key":"10.1006\/mgme.1999.2953_RF6","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"935","article-title":"Glycogen storage diseases","author":"Chen","year":"1995"},{"key":"10.1006\/mgme.1999.2953_RF7","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":"Annal Int Med"},{"key":"10.1006\/mgme.1999.2953_RF8","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":"10.1006\/mgme.1999.2953_RF9","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1111\/j.1432-1033.1967.tb00134.x","article-title":"The subgroups of type 3 glycogenosis","volume":"2","author":"Van Hoof","year":"1967","journal-title":"Eur J Biochem"},{"key":"10.1006\/mgme.1999.2953_RF10","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":"10.1006\/mgme.1999.2953_RF11","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":"10.1006\/mgme.1999.2953_RF12","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":"10.1006\/mgme.1999.2953_RF13","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1023\/A:1005343625756","article-title":"Two new mutations in the 3\u2032 coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient","volume":"21","author":"Parvari","year":"1998","journal-title":"J Inherit Metab Dis"},{"key":"10.1006\/mgme.1999.2953_RF14","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":"10.1006\/mgme.1999.2953_RF15","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1007\/BF00194629","article-title":"Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment","volume":"86","author":"Krawczak","year":"1991","journal-title":"Hum Genet"},{"key":"10.1006\/mgme.1999.2953_RF16","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/S0021-9258(17)42446-X","article-title":"The base substitution fidelity of eucaryotic DNA polymerases","volume":"261","author":"Kunkel","year":"1986","journal-title":"J Biol Chem"},{"key":"10.1006\/mgme.1999.2953_RF17","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1007\/BF00197158","article-title":"Mechanisms of insertional mutagenesis in human genes causing genetic disease","volume":"87","author":"Cooper","year":"1991","journal-title":"Hum Genet"},{"key":"10.1006\/mgme.1999.2953_RF18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s004390050646","article-title":"A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12 \u2192 G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb","volume":"102","author":"Okubo","year":"1998","journal-title":"Hum Genet"},{"key":"10.1006\/mgme.1999.2953_RF19","series-title":"Congenital Metabolic Disease: Diagnosis and Treatment","first-page":"227","article-title":"Diagnosis of glycogen storage disease","author":"Brown","year":"1985"},{"key":"10.1006\/mgme.1999.2953_RF20","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":"10.1006\/mgme.1999.2953_RF21","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1006\/bbrc.1996.1055","article-title":"A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III [published erratum appears in Biochem Biophys Res Commun 1996 225:695]","volume":"224","author":"Okubo","year":"1996","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1006\/mgme.1999.2953_RF22","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1023\/A:1005572906807","article-title":"Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa","volume":"22","author":"Hadjigeorgiou","year":"1999","journal-title":"J Inherit Metab Dis"},{"key":"10.1006\/mgme.1999.2953_RF23","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1002\/(SICI)1098-1004(1997)9:1<37::AID-HUMU6>3.0.CO;2-M","article-title":"A nonsense mutation due to a single base insertion in the 3\u2032-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa","volume":"9","author":"Shen","year":"1997","journal-title":"Hum Mutat"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719299929530?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719299929530?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T23:48:47Z","timestamp":1761090527000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719299929530"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,1]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2000,1]]}},"alternative-id":["S1096719299929530"],"URL":"https:\/\/doi.org\/10.1006\/mgme.1999.2953","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2000,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genotype-Phenotype Correlation in Two Frequent Mutations and Mutation Update in Type III Glycogen Storage Disease","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1006\/mgme.1999.2953","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"converted-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2000 Academic Press. All rights reserved.","name":"copyright","label":"Copyright"}]}}