{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T16:53:00Z","timestamp":1760028780832},"reference-count":9,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2012,12,1]],"date-time":"2012-12-01T00:00:00Z","timestamp":1354320000000},"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":["Gene"],"published-print":{"date-parts":[[2012,12]]},"DOI":"10.1016\/j.gene.2012.09.020","type":"journal-article","created":{"date-parts":[[2012,9,18]],"date-time":"2012-09-18T18:16:50Z","timestamp":1347992210000},"page":"122-124","source":"Crossref","is-referenced-by-count":6,"title":["A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia"],"prefix":"10.1016","volume":"511","author":[{"given":"Jie","family":"Zhu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Xing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuenong","family":"Xing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"An","family":"Ren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shandong","family":"Ye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guoping","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2012.09.020_bb0020","doi-asserted-by":"crossref","first-page":"25","DOI":"10.2174\/1566524013364112","article-title":"The molecular basis of type 1 glycogen storage diseases","volume":"1","author":"Chou","year":"2001","journal-title":"Curr. Mol. Med."},{"issue":"7","key":"10.1016\/j.gene.2012.09.020_bb0025","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1002\/humu.20772","article-title":"Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease","volume":"29","author":"Chou","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2012.09.020_bb0010","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/1750-1172-6-27","article-title":"Glucose-6-phosphatase deficiency","volume":"6","author":"Froissart","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.gene.2012.09.020_bb0015","first-page":"549","article-title":"Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type Ia in Japan","volume":"57","author":"Kajihara","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2012.09.020_bb0005","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1126\/science.8211187","article-title":"Mutations in the glucose\u20106\u2010phosphatase gene that cause glycogen storage disease type1a","volume":"262","author":"Lei","year":"1993","journal-title":"Science"},{"key":"10.1016\/j.gene.2012.09.020_bb0035","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1046\/j.1440-1746.2001.02645.x","article-title":"Glucose-6-phosphatase gene mutations in 20 adult Japanese patients with glycogen storage disease type Ia with reference to hepatic tumors","volume":"16","author":"Nakamura","year":"2001","journal-title":"J. Gastroenterol. Hepatol."},{"issue":"8","key":"10.1016\/j.gene.2012.09.020_bb0030","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1023\/B:BOLI.0000009992.78840.77","article-title":"Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients","volume":"26","author":"Qiu","year":"2003","journal-title":"J. Inherit. Metab. Dis."},{"issue":"4","key":"10.1016\/j.gene.2012.09.020_bb0045","first-page":"252","article-title":"Heterogeneous phenotypes in Chinese glycogen storage disease type Ia patients with homozygous G727T mutation","volume":"41","author":"Qiu","year":"2003","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"10.1016\/j.gene.2012.09.020_bb0040","first-page":"502","article-title":"Gene mutation and clinical study in the patients with glycogen storage disease type Ia","volume":"20","author":"Wen-juan","year":"2004","journal-title":"Chin J Endocrinol Metab"}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111912011018?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111912011018?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,20]],"date-time":"2018-11-20T18:25:43Z","timestamp":1542738343000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111912011018"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["S0378111912011018"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2012.09.020","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2012,12]]}}}