{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T05:34:57Z","timestamp":1693287297284},"reference-count":5,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2009,8,1]],"date-time":"2009-08-01T00:00:00Z","timestamp":1249084800000},"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":[[2009,8]]},"DOI":"10.1016\/j.ymgme.2009.04.012","type":"journal-article","created":{"date-parts":[[2009,5,5]],"date-time":"2009-05-05T09:23:20Z","timestamp":1241515400000},"page":"315","source":"Crossref","is-referenced-by-count":1,"title":["Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation"],"prefix":"10.1016","volume":"97","author":[{"given":"M.","family":"Chopra","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Durkie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.J.","family":"Beauchamp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.P.","family":"Kirk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2009.04.012_bib1","unstructured":"Y. Chen, Glycogen storage diseases, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic Basis of Inherited Disease, McGraw-Hill, New York, 2001, pp. 1521\u20131551."},{"key":"10.1016\/j.ymgme.2009.04.012_bib2","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/S0022-3476(98)70463-9","article-title":"A new mutation of the glucose-6-phosphatase gene in a 4 year old girl with oligosymptomatic glycogen storage disease type 1a","volume":"132","author":"Keller","year":"1998","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2009.04.012_bib3","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.ymgme.2006.11.002","article-title":"Glycogen storage disease type 1b without hypoglycemia","volume":"90","author":"Kovavevic","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2009.04.012_bib4","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","article-title":"Improved splice site detection in genie","volume":"4","author":"Reese","year":"1997","journal-title":"J. Comp. Biol."},{"key":"10.1016\/j.ymgme.2009.04.012_bib5","doi-asserted-by":"crossref","first-page":"1729","DOI":"10.1086\/302938","article-title":"Phenotypes of patients with \u201csimple\u201d Mendelian disorders are complex traits-thresholds, modifiers and systems dynamics","volume":"66","author":"Dipple","year":"2000","journal-title":"Am. J. Hum. Genet."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719209001115?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719209001115?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,20]],"date-time":"2018-12-20T04:27:46Z","timestamp":1545280066000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719209001115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,8]]},"references-count":5,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,8]]}},"alternative-id":["S1096719209001115"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2009.04.012","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2009,8]]}}}