{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:39:26Z","timestamp":1762004366833},"reference-count":37,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"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":["Human Pathology"],"published-print":{"date-parts":[[2012,6]]},"DOI":"10.1016\/j.humpath.2011.10.001","type":"journal-article","created":{"date-parts":[[2012,2,2]],"date-time":"2012-02-02T18:53:08Z","timestamp":1328208788000},"page":"943-951","source":"Crossref","is-referenced-by-count":23,"title":["Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review"],"prefix":"10.1016","volume":"43","author":[{"given":"Pilar L.","family":"Magoulas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayman W.","family":"El-Hattab","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angshumoy","family":"Roy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deeksha S.","family":"Bali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milton J.","family":"Finegold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William J.","family":"Craigen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.humpath.2011.10.001_bb0005","series-title":"The metabolic and molecular basis of inherited disease","first-page":"1521","article-title":"Glycogen storage disease","author":"Chen","year":"2001"},{"key":"10.1016\/j.humpath.2011.10.001_bb0010","doi-asserted-by":"crossref","first-page":"177","DOI":"10.2174\/1566524024605815","article-title":"The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies","volume":"2","author":"Moses","year":"2002","journal-title":"Curr Mol Med"},{"key":"10.1016\/j.humpath.2011.10.001_bb0015","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/j.jpeds.2004.07.024","article-title":"Neonatal type IV glycogen storage disease associated with null mutations in glycogen branching enzyme 1","volume":"145","author":"Janecke","year":"2004","journal-title":"J Pediatr"},{"key":"10.1016\/j.humpath.2011.10.001_bb0020","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.nmd.2003.12.006","article-title":"Fatal infantile neuromuscular presentation of glycogen storage disease type IV","volume":"14","author":"Tay","year":"2004","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.humpath.2011.10.001_bb0025","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1111\/j.1399-3046.2007.00803.x","article-title":"Liver transplantation in children with glycogen storage disease: controversies and evaluation of the risk\/benefit of this procedure","volume":"12","author":"Davis","year":"2008","journal-title":"Pediatr Transplant"},{"key":"10.1016\/j.humpath.2011.10.001_bb0030","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1002\/ana.410440604","article-title":"Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene","volume":"44","author":"Lossos","year":"1998","journal-title":"Ann Neurol"},{"key":"10.1016\/j.humpath.2011.10.001_bb0035","doi-asserted-by":"crossref","first-page":"7509","DOI":"10.1016\/S0021-9258(18)53204-X","article-title":"Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast","volume":"268","author":"Thin","year":"1993","journal-title":"J Biol Chem"},{"key":"10.1016\/j.humpath.2011.10.001_bb0040","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1056\/NEJM199101033240111","article-title":"Continuing lessons from glycogen storage diseases","volume":"324","author":"Howell","year":"1991","journal-title":"N Engl J Med"},{"key":"10.1016\/j.humpath.2011.10.001_bb0045","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1073\/pnas.56.2.725","article-title":"Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis","volume":"56","author":"Brown","year":"1966","journal-title":"Proc Natl Acad Sci"},{"key":"10.1016\/j.humpath.2011.10.001_bb0050","doi-asserted-by":"crossref","DOI":"10.1007\/s10545-009-9026-5","article-title":"Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder","author":"Li","year":"2010","journal-title":"J Inherit Metab Dis Epub"},{"key":"10.1016\/j.humpath.2011.10.001_bb0055","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1177\/0883073807309248","article-title":"A case of congenital glycogen storage disease type IV with a novel GBE1 mutation","volume":"23","author":"Raju","year":"2008","journal-title":"J Child Neurol"},{"key":"10.1016\/j.humpath.2011.10.001_bb0060","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1016\/0006-291X(83)90354-6","article-title":"Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with type IV glycogen storage disease","volume":"111","author":"Brown","year":"1983","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.humpath.2011.10.001_bb0065","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1002\/pd.1533","article-title":"Prenatal diagnosis of glycogen storage disease type IV","volume":"26","author":"Akman","year":"2006","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.humpath.2011.10.001_bb0070","doi-asserted-by":"crossref","first-page":"2319","DOI":"10.1093\/hmg\/10.21.2319","article-title":"Understanding human disease mutations through the use of interspecific genetic variation","volume":"10","author":"Miller","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.humpath.2011.10.001_bb0075","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1002\/1531-8249(200004)47:4<536::AID-ANA22>3.0.CO;2-K","article-title":"Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease","volume":"47","author":"Ziemssen","year":"2000","journal-title":"Ann Neurol"},{"key":"10.1016\/j.humpath.2011.10.001_bb0080","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1212\/01.WNL.0000138429.11433.0D","article-title":"Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)","volume":"63","author":"Bruno","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.humpath.2011.10.001_bb0085","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1007\/s00401-008-0417-8","article-title":"Congenital type IV glycogenosis: the spectrum of plepmorhpic polyglucosan bodies in muscle nerve, and spinal cord with two novel mutations in the GBE1 gene","volume":"116","author":"Nolte","year":"2008","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.humpath.2011.10.001_bb0090","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1172\/JCI118517","article-title":"Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene","volume":"97","author":"Bao","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1016\/j.humpath.2011.10.001_bb0095","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1212\/01.WNL.0000073141.61695.B3","article-title":"A neonatal form of glycogen storage disease type IV","volume":"61","author":"Nambu","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.humpath.2011.10.001_bb0100","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/j.bbrc.2007.07.074","article-title":"Null mutations and lethal congenital form of glycogen storage disease type IV","volume":"361","author":"Assereto","year":"2007","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.humpath.2011.10.001_bb0105","first-page":"105","article-title":"Nervous system involvement in type IV glycogenosis","volume":"103","author":"McMaster","year":"1979","journal-title":"Arch Pathol Lab Med"},{"key":"10.1016\/j.humpath.2011.10.001_bb0110","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1007\/BF00294181","article-title":"Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis","volume":"87","author":"Tang","year":"1994","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.humpath.2011.10.001_bb0115","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0022-3476(87)80341-4","article-title":"Severe cardiopathy in branching enzyme deficiency","volume":"111","author":"Servidei","year":"1987","journal-title":"J Pediatr"},{"key":"10.1016\/j.humpath.2011.10.001_bb0120","first-page":"11","article-title":"Familial cirrhosis of the liver with storage of abnormal glycogen","volume":"5","author":"Andersen","year":"1956","journal-title":"Lab Invest"},{"key":"10.1016\/j.humpath.2011.10.001_bb0125","first-page":"357","article-title":"Type IV glycogenosis","volume":"15","author":"Holleman","year":"1966","journal-title":"Lab Invest"},{"key":"10.1016\/j.humpath.2011.10.001_bb0130","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1136\/adc.43.229.347","article-title":"Branching enzyme-deficiency glycogenosis: studies in therapy","volume":"43","author":"Fernandes","year":"1968","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.humpath.2011.10.001_bb0135","first-page":"354","article-title":"Type IV glycogenosis (amylopectinosis). Light and electron microscopic observations","volume":"90","author":"Schochet","year":"1970","journal-title":"Arch Pathol"},{"key":"10.1016\/j.humpath.2011.10.001_bb0140","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/S0960-8966(99)00040-1","article-title":"A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy","volume":"9","author":"Bruno","year":"1999","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.humpath.2011.10.001_bb0145","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1002\/ajmg.a.31166","article-title":"Non-lethal congenital hypotonia due to glycogen storage disease type IV","volume":"140","author":"Burrow","year":"2006","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.humpath.2011.10.001_bb0150","doi-asserted-by":"crossref","DOI":"10.1007\/s10545-009-1134-8","article-title":"Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene","author":"Lamperti","year":"2009","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.humpath.2011.10.001_bb0155","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.spen.2006.06.007","article-title":"Glycogen storage disease: clinical, biochemical, and molecular heterogeneity","volume":"13","author":"Shin","year":"2006","journal-title":"Semin Pediatr Neurol"},{"key":"10.1016\/j.humpath.2011.10.001_bb0160","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/ajmg.a.30945","article-title":"Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family","volume":"139","author":"L'hermin\u00e9-Coulomb","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.humpath.2011.10.001_bb0165","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1002\/(SICI)1097-0223(199909)19:9<837::AID-PD652>3.0.CO;2-G","article-title":"Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis","volume":"19","author":"Shen","year":"1999","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.humpath.2011.10.001_bb0170","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1002\/mus.20384","article-title":"Adult polyglucosan body disease: a case report of a manifesting heterozygote","volume":"32","author":"Ubogu","year":"2005","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.humpath.2011.10.001_bb0175","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.placenta.2008.01.005","article-title":"Placental involvement in glycogen storage disease type IV","volume":"29","author":"Konstantinidou","year":"2008","journal-title":"Placenta"},{"key":"10.1016\/j.humpath.2011.10.001_bb0180","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1212\/01.WNL.0000073144.96680.CB","article-title":"Adult polyglucosan body disease: a postmortem correlation study","volume":"61","author":"Sindern","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.humpath.2011.10.001_bb0185","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1002\/mus.20916","article-title":"Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene","volume":"37","author":"Massa","year":"2008","journal-title":"Muscle Nerve"}],"container-title":["Human Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0046817711004084?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0046817711004084?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,12,27]],"date-time":"2021-12-27T18:39:24Z","timestamp":1640630364000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0046817711004084"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6]]},"references-count":37,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["S0046817711004084"],"URL":"https:\/\/doi.org\/10.1016\/j.humpath.2011.10.001","relation":{},"ISSN":["0046-8177"],"issn-type":[{"value":"0046-8177","type":"print"}],"subject":[],"published":{"date-parts":[[2012,6]]}}}