{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T06:43:20Z","timestamp":1772520200620,"version":"3.50.1"},"publisher-location":"Berlin, Heidelberg","reference-count":15,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"value":"9783662586464","type":"print"},{"value":"9783662586471","type":"electronic"}],"license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018]]},"DOI":"10.1007\/8904_2018_148","type":"book-chapter","created":{"date-parts":[[2018,12,19]],"date-time":"2018-12-19T04:32:03Z","timestamp":1545193923000},"page":"99-104","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?"],"prefix":"10.1007","author":[{"given":"Imre F.","family":"Schene","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christoph G.","family":"Korenke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidde H.","family":"Huidekoper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ludo","family":"van der Pol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dennis","family":"Dooijes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes M. P. J.","family":"Breur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saskia","family":"Biskup","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine A.","family":"Fuchs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gepke","family":"Visser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,12,20]]},"reference":[{"issue":"7","key":"148_CR1","doi-asserted-by":"publisher","first-page":"884","DOI":"10.1111\/j.1651-2227.2000.tb00399.x","volume":"89","author":"F Akalin","year":"2000","unstructured":"Akalin F, Alper G, Oztun\u00e7 F, Kotilo\u011flu E, Turan S (2000) A case of glycogen storage disease type II with double aortic arch. Acta Paediatr 89(7):884\u2013886","journal-title":"Acta Paediatr"},{"key":"148_CR2","doi-asserted-by":"publisher","first-page":"878","DOI":"10.1002\/ajmg.a.31166","volume":"140","author":"TA Burrow","year":"2006","unstructured":"Burrow TA, Hopkin RJ, Bove KE et al (2006) Non-lethal congenital hypotonia due to glycogen storage disease type IV. Am J Med Genet A 140:878\u2013882","journal-title":"Am J Med Genet A"},{"issue":"45","key":"148_CR3","doi-asserted-by":"publisher","first-page":"19096","DOI":"10.1073\/pnas.0910672106","volume":"106","author":"M Choi","year":"2009","unstructured":"Choi M, Scholl UI, Ji W (2009) Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A 106(45):19096\u201319101","journal-title":"Proc Natl Acad Sci U S A"},{"key":"148_CR4","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1016\/j.nmd.2015.01.015","volume":"25","author":"I Colombo","year":"2015","unstructured":"Colombo I, Pagliarani S, Testolin S et al (2015) Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family. Neuromuscul Disord 25:423\u2013428","journal-title":"Neuromuscul Disord"},{"key":"148_CR5","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/mus.21499","volume":"41","author":"C Fernandez","year":"2010","unstructured":"Fernandez C, Halbert C, De Paula AM et al (2010) Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations. Muscle Nerve 41:269\u2013271","journal-title":"Muscle Nerve"},{"key":"148_CR6","volume-title":"GeneReviews","author":"CJ Klein","year":"2013","unstructured":"Klein CJ (2013) Adult polyglucosan body disease. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Smith RJ et al (eds) GeneReviews. University of Washington, Seattle. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK5300\/ . Retrieved 1 Dec 2017"},{"issue":"3","key":"148_CR7","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1093\/hmg\/ddq492","volume":"20","author":"YC Lee","year":"2011","unstructured":"Lee YC, Chang CJ, Bali D, Chen YT, Yan YT (2011) Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. Hum Mol Genet 20(3):455\u2013456","journal-title":"Hum Mol Genet"},{"issue":"3","key":"148_CR8","doi-asserted-by":"publisher","first-page":"S83","DOI":"10.1007\/s10545-009-9026-5","volume":"33","author":"S Li","year":"2010","unstructured":"Li S, Chen C, Goldstein J et al (2010) Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. J Inherit Metab Dis 33(3):S83\u2013S90","journal-title":"J Inherit Metab Dis"},{"key":"148_CR9","volume-title":"GeneReviews","author":"PL Magoulas","year":"2013","unstructured":"Magoulas PL, El-Hattab AW (2013) Glycogen storage disease type IV. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Smith RJ et al (eds) GeneReviews. University of Washington, Seattle. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK115333\/ . Retrieved 1 Dec 2017"},{"key":"148_CR10","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1016\/j.humpath.2011.10.001","volume":"43","author":"PL Magoulas","year":"2012","unstructured":"Magoulas PL, El-Hattab AW, Angshumoy R, Bali DS, Finegold MJ, Craigen WJ (2012) Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. Hum Pathol 43:943\u2013951","journal-title":"Hum Pathol"},{"issue":"2","key":"148_CR11","doi-asserted-by":"publisher","first-page":"177","DOI":"10.2174\/1566524024605815","volume":"2","author":"SW Moses","year":"2002","unstructured":"Moses SW, Parvari R (2002) The variable presentations of glycogen storage disease type IV. Curr Mol Med 2(2):177\u2013188","journal-title":"Curr Mol Med"},{"key":"148_CR12","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1016\/j.nmd.2012.11.005","volume":"23","author":"G Ravenscroft","year":"2013","unstructured":"Ravenscroft G, Thompson EM, Todd EJ et al (2013) Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. Neuromuscul Disord 23:165\u2013169","journal-title":"Neuromuscul Disord"},{"key":"148_CR13","doi-asserted-by":"publisher","first-page":"2844","DOI":"10.1093\/brain\/aww221","volume":"139","author":"ES Reid","year":"2016","unstructured":"Reid ES, Papandreou A, Drury S et al (2016) Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. Brain 139:2844\u20132854","journal-title":"Brain"},{"key":"148_CR14","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1016\/j.humpath.2016.03.021","volume":"54","author":"SM Said","year":"2016","unstructured":"Said SM, Murphree MI, Mounajjed T, El-Youssef M, Zhang L (2016) A novel GBE1 gene variant in a child with glycogen storage disease type IV. Hum Pathol 54:152\u2013156","journal-title":"Hum Pathol"},{"key":"148_CR15","first-page":"105","volume":"7\u20138","author":"AK Slepov","year":"1997","unstructured":"Slepov AK, Chumakov LF (1997) Co-occurrence of double aortic arch with mucopolysaccharidosis in an infant. Klin Khir 7\u20138:105","journal-title":"Klin Khir"}],"container-title":["JIMD Reports","JIMD Reports, Volume 45"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2018_148","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,18]],"date-time":"2020-11-18T05:09:39Z","timestamp":1605676179000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2018_148"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"ISBN":["9783662586464","9783662586471"],"references-count":15,"URL":"https:\/\/doi.org\/10.1007\/8904_2018_148","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"value":"2192-8304","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018]]},"assertion":[{"value":"24 April 2018","order":1,"name":"received","label":"Received","group":{"name":"ChapterHistory","label":"Chapter History"}},{"value":"14 September 2018","order":2,"name":"revised","label":"Revised","group":{"name":"ChapterHistory","label":"Chapter History"}},{"value":"18 October 2018","order":3,"name":"accepted","label":"Accepted","group":{"name":"ChapterHistory","label":"Chapter History"}},{"value":"20 December 2018","order":4,"name":"first_online","label":"First Online","group":{"name":"ChapterHistory","label":"Chapter History"}}]}}