{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T09:28:30Z","timestamp":1790933310033,"version":"4.1.0"},"reference-count":31,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[1998,10,1]],"date-time":"1998-10-01T00:00:00Z","timestamp":907200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":5405,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[1998,10]]},"DOI":"10.1086\/302068","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:41Z","timestamp":1027709261000},"page":"976-983","source":"Crossref","is-referenced-by-count":101,"title":["A Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and Ic"],"prefix":"10.1016","volume":"63","author":[{"given":"Maria","family":"Veiga-da-Cunha","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Gerin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan-Tsong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"de Barsy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"de Lonlay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Dionisi-Vici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane D.","family":"Fenske","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip J.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James V.","family":"Leonard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ir\u00e8ne","family":"Maire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allyn","family":"McConkie-Rosell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Schweitzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miikka","family":"Vikkula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emile","family":"Van Schaftingen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/302068_bib1","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1086\/301727","article-title":"The gene for glycogen-storage disease type Ib maps to chromosome 11q23","volume":"62","author":"Annabi","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302068_bib4","doi-asserted-by":"crossref","first-page":"6223","DOI":"10.1074\/jbc.273.11.6223","article-title":"Direct evidence for the involvement of two glucose 6-phosphate binding sites in the glucose-6-phosphatase activity of intact liver microsomes","volume":"273","author":"Arion","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1086\/302068_bib5","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1006\/abbi.1997.0563","article-title":"Chlorogenic acid analogue S3483: a potent competitive inhibitor of the hepatic and renal glucose-6-phopshatase systems","volume":"351","author":"Arion","year":"1998","journal-title":"Arch Biochem Biophys"},{"key":"10.1086\/302068_bib3","doi-asserted-by":"crossref","first-page":"10396","DOI":"10.1016\/S0021-9258(19)70478-5","article-title":"Evidence for the participation of independent translocases for phosphate and glucose 6-phosphate in the microsomal glucose-6-phosphatase system","volume":"255","author":"Arion","year":"1980","journal-title":"J Biol Chem"},{"key":"10.1086\/302068_bib2","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/BF01732001","article-title":"On the involvement of a glucose 6-phosphate transport system in the function of microsomal glucose 6-phosphatase","volume":"6","author":"Arion","year":"1975","journal-title":"Mol Cell Biochem"},{"key":"10.1086\/302068_bib6","doi-asserted-by":"crossref","first-page":"5497","DOI":"10.1016\/S0021-9258(19)67622-2","article-title":"Rapid kinetics of liver microsomal glucose-6-phosphatase: evidence for tight coupling between glucose-6-phosphate transport and phosphohydrolase activity","volume":"266","author":"Berteloot","year":"1991","journal-title":"J Biol Chem"},{"key":"10.1086\/302068_bib7","series-title":"Congenital metabolic myopathy","first-page":"227","article-title":"Diagnosis of glycogen storage disease","author":"Brown","year":"1985"},{"key":"10.1086\/302068_bib8","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1042\/bj3310973","article-title":"A re-evaluation of Glut 7","volume":"331","author":"Burchell","year":"1998","journal-title":"Biochem J"},{"key":"10.1086\/302068_bib9","doi-asserted-by":"crossref","first-page":"1633","DOI":"10.1093\/clinchem\/36.9.1633","article-title":"Ontogeny of human hepatic microsomal glucose-6-phosphatase proteins","volume":"36","author":"Burchell","year":"1990","journal-title":"Clin Chem"},{"key":"10.1086\/302068_bib10","series-title":"The metabolic and molecular bases of inherited disease","first-page":"935","article-title":"Glycogen storage diseases","author":"Chen","year":"1995"},{"key":"10.1086\/302068_bib11","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1136\/jmg.35.4.269","article-title":"Localisation of the gene for glycogen storage disease type Ic by homozygosity mapping to 11q","volume":"35","author":"Fenske","year":"1998","journal-title":"J Med Genet"},{"key":"10.1086\/302068_bib12","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/S0014-5793(97)01463-4","article-title":"Sequence of a putative glucose 6-phosphate translocase mutated in glycogen storage disease type Ib","volume":"419","author":"Gerin","year":"1997","journal-title":"FEBS Lett"},{"issue":"Suppl","key":"10.1086\/302068_bib13","doi-asserted-by":"crossref","first-page":"S33","DOI":"10.1007\/BF02072085","article-title":"Defective neutrophil and monocyte functions in glycogen storage disease type Ib: a literature review","volume":"152","author":"Gitzelmann","year":"1993","journal-title":"Eur J Pediatr"},{"key":"10.1086\/302068_bib14","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/0304-4165(79)90421-5","article-title":"Different developmental changes in latency for two functions of a single membrane-bound enzyme: glucose-6-phosphatase activities as a function of age","volume":"523","author":"Goldsmith","year":"1979","journal-title":"Biochem Biophys Acta"},{"key":"10.1086\/302068_bib15","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1007\/BF02436000","article-title":"Multiple transport protein defects in a patient with glycogen storage disease type I: GSD Ib\/IC\u03b2","volume":"18","author":"Hawkins","year":"1995","journal-title":"J Inherit Metab Dis"},{"key":"10.1086\/302068_bib16","first-page":"21","article-title":"Le syst\u00e8me hexose-phosphatasique. III. - Localisation intra-cellulaire des ferments par centrifugation fractionn\u00e9e","volume":"33","author":"Hers","year":"1951","journal-title":"Bulletin de la Soci\u00e9t\u00e9 de Chimie Biologique"},{"key":"10.1086\/302068_bib17","doi-asserted-by":"crossref","first-page":"3153","DOI":"10.1002\/j.1460-2075.1990.tb07513.x","article-title":"Identification of a consensus motif for retention in the endoplasmic reticulum","volume":"9","author":"Jackson","year":"1990","journal-title":"EMBO J"},{"key":"10.1086\/302068_bib18","doi-asserted-by":"crossref","first-page":"8381","DOI":"10.1016\/S0021-9258(18)43502-8","article-title":"Type Ib glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system","volume":"255","author":"Lange","year":"1980","journal-title":"J Biol Chem"},{"key":"10.1086\/302068_bib20","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1172\/JCI117645","article-title":"Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types Ia and IaSP but not Ib and Ic","volume":"95","author":"Lei","year":"1995","journal-title":"J Clin Invest"},{"key":"10.1086\/302068_bib19","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1126\/science.8211187","article-title":"Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type Ia","volume":"262","author":"Lei","year":"1993","journal-title":"Science"},{"key":"10.1086\/302068_bib21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1128\/MMBR.54.1.1-17.1990","article-title":"Anion-exchange mechanisms in bacteria","volume":"54","author":"Maloney","year":"1990","journal-title":"Microbiol Rev"},{"key":"10.1086\/302068_bib22","series-title":"Escherichia coli and Salmonella: cellular and molecular biology","first-page":"1130","article-title":"Ion-coupled transport and transporters","author":"Maloney","year":"1996"},{"key":"10.1086\/302068_bib23","first-page":"224","article-title":"Liver microsomal transport of glucose-6-phosphate, glucose, and phosphate in type I glycogen storage diseases","volume":"83","author":"Marcolongo","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1086\/302068_bib24","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.1016\/0006-291X(78)91371-2","article-title":"A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system","volume":"83","author":"Narisawa","year":"1978","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/302068_bib25","doi-asserted-by":"crossref","first-page":"9739","DOI":"10.1016\/S0021-9258(17)44560-1","article-title":"Type Ic, a novel glycogenosis: underlying mechanism","volume":"258","author":"Nordlie","year":"1983","journal-title":"J Biol Chem"},{"key":"10.1086\/302068_bib26","doi-asserted-by":"crossref","first-page":"2766","DOI":"10.1073\/pnas.86.8.2766","article-title":"Detection of polymorphisms of human single-strand conformation polymorphisms","volume":"86","author":"Orita","year":"1989","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/302068_bib27","doi-asserted-by":"crossref","first-page":"16571","DOI":"10.1016\/S0021-9258(18)66605-0","article-title":"Evidence for changes in the conformational status of rat liver microsomal glucose-6-phosphate phosphohydrolase during detergent-dependent membrane modification","volume":"261","author":"Schulze","year":"1986","journal-title":"J Biol Chem"},{"key":"10.1086\/302068_bib28","doi-asserted-by":"crossref","first-page":"21092","DOI":"10.1074\/jbc.270.36.21092","article-title":"Glucose transport and glucose-6-phosphate hydrolysis in intact rat liver microsomes","volume":"270","author":"St-Denis","year":"1995","journal-title":"J Biol Chem"},{"key":"10.1086\/302068_bib29","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/0005-2744(78)90163-8","article-title":"Intramembraneous localisation of rat liver microsomal hexose-6-phosphate dehydrogenase and membrane permeability to its substrates","volume":"524","author":"Takahashi","year":"1978","journal-title":"Biochim Biophys Acta"},{"key":"10.1086\/302068_bib31","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1042\/bj2750363","article-title":"Identification and characterization of a hepatic microsomal glucose transport protein: T3 of the glucose-6-phosphatase system?","volume":"275","author":"Waddell","year":"1991","journal-title":"Biochem J"},{"key":"10.1086\/302068_bib30","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1042\/bj2860173","article-title":"Cloning and expression of a hepatic microsomal glucose transporter: comparison with liver plasma-membrane glucose-transporter protein GLUT 2","volume":"286","author":"Waddell","year":"1992","journal-title":"Biochem J"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970761787X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970761787X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,17]],"date-time":"2021-05-17T06:23:53Z","timestamp":1621232633000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292970761787X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,10]]},"references-count":31,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1998,10]]}},"alternative-id":["S000292970761787X"],"URL":"https:\/\/doi.org\/10.1086\/302068","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[1998,10]]}}}