{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T08:46:06Z","timestamp":1791103566524,"version":"4.1.0"},"reference-count":29,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[1998,2,1]],"date-time":"1998-02-01T00:00:00Z","timestamp":886291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[1998,2,1]],"date-time":"1998-02-01T00:00:00Z","timestamp":886291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2008,1,9]],"date-time":"2008-01-09T00:00:00Z","timestamp":1199836800000},"content-version":"vor","delay-in-days":3629,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[1998,2]]},"DOI":"10.1086\/301727","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T14:45:21Z","timestamp":1027694721000},"page":"400-405","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":108,"title":["The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23"],"prefix":"10.1016","volume":"62","author":[{"given":"Borhane","family":"Annabi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian C.","family":"Mansfield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisayuki","family":"Hiraiwa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ke-Jian","family":"Lei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsuneyuki","family":"Ubagai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mihael H.","family":"Polymeropoulos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shimon W.","family":"Moses","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruti","family":"Parvari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eli","family":"Hershkovitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Mandel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moshe","family":"Fryman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice Yang","family":"Chou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/301727_bib1","series-title":"The metabolic and molecular bases of inherited disease","first-page":"3955","article-title":"Leukocyte adhesion deficiency and other disorders of leukocyte adherence and mobility","author":"Anderson","year":"1995"},{"key":"10.1086\/301727_bib2","doi-asserted-by":"crossref","first-page":"10396","DOI":"10.1016\/S0021-9258(19)70478-5","article-title":"Evidence of 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\/301727_bib3","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1016\/S0022-3476(80)80418-5","article-title":"Neutropenia and impaired neutrophil migration in type 1B glycogen storage disease","volume":"97","author":"Beaudet","year":"1980","journal-title":"J Pediatr"},{"key":"10.1086\/301727_bib4","doi-asserted-by":"crossref","first-page":"3466","DOI":"10.1016\/S0021-9258(18)69094-5","article-title":"MgATP-dependent glucose-6-phosphate-stimulated calcium accumulation in liver microsomal fractions","volume":"263","author":"Benedetti","year":"1988","journal-title":"J Biol Chem"},{"key":"10.1086\/301727_bib5","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\/301727_bib6","doi-asserted-by":"crossref","first-page":"14771","DOI":"10.1073\/pnas.93.25.14771","article-title":"A metric map of humans: 23,500 loci in 850 bands","volume":"93","author":"Collins","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/301727_bib7","series-title":"In: Current protocols in human genetics","article-title":"Use of linkage programs for linkage analysis","author":"Dracopoli","year":"1995"},{"key":"10.1086\/301727_bib8","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1007\/BF00442683","article-title":"Glycogen storage disease: recommendations for treatment","volume":"147","author":"Fernandes","year":"1988","journal-title":"Eur J Pediatr"},{"key":"10.1086\/301727_bib9","doi-asserted-by":"crossref","first-page":"314","DOI":"10.3181\/00379727-215-44142","article-title":"Glucose-6-phosphatases structure, regulation, and function: an update","volume":"215","author":"Foster","year":"1997","journal-title":"Proc Soc Exp Biol Med"},{"key":"10.1086\/301727_bib10","series-title":"Inflammation: basic principles and clinical correlates","first-page":"859","article-title":"Disorders of phagocytic cells","author":"Gallin","year":"1992"},{"issue":"suppl 1","key":"10.1086\/301727_bib11","doi-asserted-by":"crossref","first-page":"S33","DOI":"10.1007\/BF02072085","article-title":"Defective neutrophil and monocyte functions in glycogen storage disease type 1b: a literature review","volume":"152","author":"Gitzelmann","year":"1993","journal-title":"Eur J Pediatr"},{"key":"10.1086\/301727_bib12","series-title":"Inflammation: basic principles and clinical correlates","first-page":"291","article-title":"Myeloid growth factors","author":"Golde","year":"1992"},{"key":"10.1086\/301727_bib13","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1016\/0092-8674(92)90603-A","article-title":"The t(4:11) chromosome translocation of human acute leukemias fuses the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene","volume":"71","author":"Gu","year":"1992","journal-title":"Cell"},{"key":"10.1086\/301727_bib14","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1016\/S0006-291X(84)80290-9","article-title":"A direct evidence for defect in glucose-6-phosphatase transport system in hepatic microsomal membrane of glycogen storage disease type 1b","volume":"119","author":"Igarashi","year":"1984","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/301727_bib15","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1172\/JCI114684","article-title":"Impaired metabolic function and signalling defects in phagocytic cells in glycogen storage disease type 1b","volume":"86","author":"Kilpatrick","year":"1990","journal-title":"J Clin Invest"},{"key":"10.1086\/301727_bib16","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1016\/S0022-3476(05)80403-2","article-title":"Treatment with lenograstim (glycosylated recombinant human granulocyte colony-stimulating factor) and orthotopic liver transplantation for glycogen storage disease type Ib","volume":"123","author":"Lachaux","year":"1993","journal-title":"J Pediatr"},{"key":"10.1086\/301727_bib17","doi-asserted-by":"crossref","first-page":"8381","DOI":"10.1016\/S0021-9258(18)43502-8","article-title":"Type 1b 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\/301727_bib18","doi-asserted-by":"crossref","first-page":"3443","DOI":"10.1073\/pnas.81.11.3443","article-title":"Strategies for multilocus linkage analysis in humans","volume":"81","author":"Lathrop","year":"1984","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/301727_bib19","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1038\/ng0696-203","article-title":"Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type 1a mouse","volume":"13","author":"Lei","year":"1996","journal-title":"Nat Genet"},{"key":"10.1086\/301727_bib20","doi-asserted-by":"crossref","first-page":"1994","DOI":"10.1172\/JCI117192","article-title":"Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a","volume":"93","author":"Lei","year":"1994","journal-title":"J Clin Invest"},{"key":"10.1086\/301727_bib21","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 type 1a and 1aSP but not 1b and 1c","volume":"95","author":"Lei","year":"1995","journal-title":"J Clin Invest"},{"key":"10.1086\/301727_bib22","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 1a","volume":"262","author":"Lei","year":"1993","journal-title":"Science"},{"key":"10.1086\/301727_bib23","first-page":"156","article-title":"Pathophysiology and dietary treatment of the glycogen storage diseases","volume":"11","author":"Moses","year":"1990","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1086\/301727_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\/301727_bib25","doi-asserted-by":"crossref","first-page":"9739","DOI":"10.1016\/S0021-9258(17)44560-1","article-title":"Type 1c, a novel glycogenosis","volume":"258","author":"Nordlie","year":"1983","journal-title":"J Biol Chem"},{"key":"10.1086\/301727_bib26","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1056\/NEJM199206183262504","article-title":"Treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors","volume":"326","author":"Roe","year":"1992","journal-title":"N Engl J Med"},{"key":"10.1086\/301727_bib27","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/sj.leu.2400607","article-title":"Functional features of neutrophils induced by G-CSF and GM-CSF treatment: differential effects and clinical implications","volume":"11","author":"Spiekermann","year":"1997","journal-title":"Leukemia"},{"key":"10.1086\/301727_bib28","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1042\/bj2750133","article-title":"Transverse topology of glucose-6-phosphatase in rat hepatic endoplasmic reticulum","volume":"275","author":"Waddell","year":"1991","journal-title":"Biochem J"},{"issue":"suppl 1","key":"10.1086\/301727_bib29","doi-asserted-by":"crossref","first-page":"S49","DOI":"10.1007\/BF02072088","article-title":"Glycogen storage disease type Ib: infectious complications and measures for prevention","volume":"152","author":"Wendel","year":"1993","journal-title":"Eur J Pediatr"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707635058?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707635058?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:07:00Z","timestamp":1757574420000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707635058"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,2]]},"references-count":29,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1998,2]]}},"alternative-id":["S0002929707635058"],"URL":"https:\/\/doi.org\/10.1086\/301727","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[1998,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1086\/301727","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 1998 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}