{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T11:56:44Z","timestamp":1762430204147},"reference-count":14,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2007,9,1]],"date-time":"2007-09-01T00:00:00Z","timestamp":1188604800000},"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":[[2007,9]]},"DOI":"10.1016\/j.ymgme.2007.05.011","type":"journal-article","created":{"date-parts":[[2007,7,6]],"date-time":"2007-07-06T12:42:39Z","timestamp":1183725759000},"page":"183-187","source":"Crossref","is-referenced-by-count":40,"title":["Glycogen storage disease type II in Spanish patients: High frequency of c.1076-1G&gt;C mutation"],"prefix":"10.1016","volume":"92","author":[{"given":"Laura","family":"Gort","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. Josep","family":"Coll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amparo","family":"Chab\u00e1s","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2007.05.011_bib1","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1136\/jmg.32.10.836-a","article-title":"Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients","volume":"32","author":"Kroos","year":"1995","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2007.05.011_bib2","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.ymgme.2007.05.011_bib3","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.ymgme.2007.05.011_bib4","doi-asserted-by":"crossref","first-page":"2231","DOI":"10.1093\/hmg\/3.12.2231","article-title":"Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T\u2192G) mutation in a majority of patients and a novel IVS10 (+1GT\u2192CT) mutation","volume":"3","author":"Huie","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2007.05.011_bib5","first-page":"887","article-title":"Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II","volume":"56","author":"Boerkoel","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2007.05.011_bib6","series-title":"Genetic Metabolic Diseases: Early Diagnosis and Prenatal Analysis","author":"Galjaard","year":"1980"},{"key":"10.1016\/j.ymgme.2007.05.011_bib7","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1002\/humu.20374","article-title":"Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II","volume":"27","author":"Montalvo","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2007.05.011_bib8","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1212\/01.wnl.0000252798.25690.76","article-title":"Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype","volume":"68","author":"Kroos","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2007.05.011_bib9","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/S0168-9525(99)01761-8","article-title":"Monogenic traits are not simple: lessons learned from phenylketonuria","volume":"15","author":"Scriver","year":"1999","journal-title":"Trends Genet."},{"key":"10.1016\/j.ymgme.2007.05.011_bib10","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1006\/mgme.2000.3052","article-title":"Modifier genes convert \u201csimple\u201d Mendelian disorders to complex traits","volume":"71","author":"Dipple","year":"2000","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2007.05.011_bib11","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."},{"key":"10.1016\/j.ymgme.2007.05.011_bib12","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1006\/mgme.2000.3066","article-title":"Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways","volume":"71","author":"Vockley","year":"2000","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2007.05.011_bib13","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1006\/mgme.2001.3227","article-title":"Consequences of complexity within biological networks: robustness and health, or vulnerability and disease","volume":"74","author":"Dipple","year":"2001","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2007.05.011_bib14","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/humu.10286","article-title":"Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II","volume":"23","author":"Hermans","year":"2004","journal-title":"Hum. Mutat."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719207001862?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719207001862?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,6]],"date-time":"2019-01-06T07:29:42Z","timestamp":1546759782000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719207001862"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,9]]},"references-count":14,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2007,9]]}},"alternative-id":["S1096719207001862"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2007.05.011","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2007,9]]}}}