{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T08:48:43Z","timestamp":1790153323174,"version":"4.0.1"},"reference-count":33,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T00:00:00Z","timestamp":1517443200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T00:00:00Z","timestamp":1517443200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2019,2,6]],"date-time":"2019-02-06T00:00:00Z","timestamp":1549411200000},"content-version":"am","delay-in-days":370,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100004329","name":"Genzyme Corporation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004329","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Lysosomal Disease Network","award":["U54NS065768"],"award-info":[{"award-number":["U54NS065768"]}]},{"name":"NIH Rare Diseases Clinical Research Network"},{"name":"Lysosomal Disease Network"},{"name":"NIH Rare Diseases Clinical Research Network"},{"name":"Lysosomal Disease Network","award":["U54NS065768"],"award-info":[{"award-number":["U54NS065768"]}]},{"DOI":"10.13039\/100006108","name":"NCATS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2018,2]]},"DOI":"10.1016\/j.ymgme.2017.10.005","type":"journal-article","created":{"date-parts":[[2017,10,14]],"date-time":"2017-10-14T03:16:07Z","timestamp":1507950967000},"page":"85-91","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":56,"title":["Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy"],"prefix":"10.1016","volume":"123","author":[{"given":"Paul T.","family":"McIntosh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa D.","family":"Hobson-Webb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoheb B.","family":"Kazi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean N.","family":"Prater","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suhrad G.","family":"Banugaria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Austin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David S.","family":"Enterline","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald P.","family":"Frush","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya S.","family":"Kishnani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.ymgme.2017.10.005_bb0005","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.jpeds.2005.11.033","article-title":"A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease","volume":"148","author":"Kishnani","year":"2006","journal-title":"J. Pediatr."},{"issue":"2","key":"10.1016\/j.ymgme.2017.10.005_bb0010","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1097\/01.GIM.0000154301.76619.5C","article-title":"Infantile onset Pompe disease: a report of physician narratives from an epidemiologic study","volume":"7","author":"Marsden","year":"2005","journal-title":"Genet. Med."},{"issue":"2","key":"10.1016\/j.ymgme.2017.10.005_bb0015","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1542\/peds.112.2.332","article-title":"The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature","volume":"112","author":"van den Hout","year":"2003","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2017.10.005_bb0020","series-title":"Scriver's OMMBID the Online Metabolic & molecular Bases of Inherited Disease","article-title":"Glycogen storage disease type II: Acid a-glucosidase (acid maltase) deficiency","author":"Hirschhorn","year":"2010"},{"issue":"3","key":"10.1016\/j.ymgme.2017.10.005_bb0025","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1097\/00005072-197107000-00008","article-title":"Nervous system in Pompe's disease. Ultrastructure and biochemistry","volume":"30","author":"Gambetti","year":"1971","journal-title":"J. Neuropathol. Exp. Neurol."},{"issue":"6","key":"10.1016\/j.ymgme.2017.10.005_bb0030","first-page":"829","article-title":"Glycogenosis type II (Pompe). The fourth autopsy case in Japan","volume":"24","author":"Sakurai","year":"1974","journal-title":"Acta Pathol. Jpn."},{"issue":"2","key":"10.1016\/j.ymgme.2017.10.005_bb0035","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1212\/01.wnl.0000251268.41188.04","article-title":"Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease","volume":"68","author":"Kishnani","year":"2007","journal-title":"Neurology"},{"issue":"12","key":"10.1016\/j.ymgme.2017.10.005_bb0040","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1038\/labinvest.3700484","article-title":"Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease","volume":"86","author":"Thurberg","year":"2006","journal-title":"Lab. Investig."},{"issue":"5","key":"10.1016\/j.ymgme.2017.10.005_bb0045","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1212\/WNL.57.5.906","article-title":"Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2","volume":"57","author":"Martini","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2017.10.005_bb0050","series-title":"Pediatric Neuropathology","first-page":"167","author":"Armstrong","year":"2007"},{"issue":"3","key":"10.1016\/j.ymgme.2017.10.005_bb0055","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1007\/BF00687878","article-title":"Pompe's disease: an inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle","volume":"23","author":"Martin","year":"1973","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ymgme.2017.10.005_bb0060","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/S0074-7696(08)60090-X","article-title":"Structure and function of the choroid plexus and other sites of cerebrospinal fluid formation","volume":"47","author":"Milhorat","year":"1976","journal-title":"Int. Rev. Cytol."},{"issue":"5","key":"10.1016\/j.ymgme.2017.10.005_bb0065","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1002\/ana.410220512","article-title":"Alpha-glucosidase deficiency and basilar artery aneurysm: report of a sibship","volume":"22","author":"Makos","year":"1987","journal-title":"Ann. Neurol."},{"issue":"1","key":"10.1016\/j.ymgme.2017.10.005_bb0070","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.jpeds.2006.02.035","article-title":"Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease","volume":"149","author":"Kishnani","year":"2006","journal-title":"J. Pediatr."},{"issue":"2","key":"10.1016\/j.ymgme.2017.10.005_bb0075","first-page":"321","article-title":"Cerebral MR manifestations of Pompe disease in an infant","volume":"17","author":"Lee","year":"1996","journal-title":"AJNR Am. J. Neuroradiol."},{"issue":"3","key":"10.1016\/j.ymgme.2017.10.005_bb0080","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1016\/S0887-8994(99)00064-8","article-title":"Hydrocephalus associated with glycogen storage disease type II (Pompe's disease)","volume":"21","author":"Sahin","year":"1999","journal-title":"Pediatr. Neurol."},{"issue":"3","key":"10.1016\/j.ymgme.2017.10.005_bb0085","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1203\/01.pdr.0000233014.84318.4e","article-title":"Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy","volume":"60","author":"Chien","year":"2006","journal-title":"Pediatr. Res."},{"issue":"6","key":"10.1016\/j.ymgme.2017.10.005_bb0090","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/j.pediatrneurol.2010.02.006","article-title":"Acute progression of neuromuscular findings in infantile Pompe disease","volume":"42","author":"Burrow","year":"2010","journal-title":"Pediatr. Neurol."},{"issue":"6","key":"10.1016\/j.ymgme.2017.10.005_bb0095","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1007\/s10545-010-9209-0","article-title":"CRIM-negative infantile Pompe disease: 42-month treatment outcome","volume":"33","author":"Rohrbach","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2017.10.005_bb0100","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1038\/gim.2011.4","article-title":"Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease","volume":"14","author":"Messinger","year":"2012","journal-title":"Genet. Med."},{"issue":"19","key":"10.1016\/j.ymgme.2017.10.005_bb0105","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1212\/WNL.0b013e3182553c11","article-title":"Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy","volume":"78","author":"Ebbink","year":"2012","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.ymgme.2017.10.005_bb0110","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/j.jpeds.2014.10.068","article-title":"Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth","volume":"166","author":"Chien","year":"2015","journal-title":"J. Pediatr."},{"issue":"13","key":"10.1016\/j.ymgme.2017.10.005_bb0115","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1212\/WNL.0000000000002523","article-title":"Cognitive decline in classic infantile Pompe disease: an underacknowledged challenge","volume":"86","author":"Ebbink","year":"2016","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2017.10.005_bb0120","article-title":"Rapidly progressive white matter involvement in early childhood: the expanding phenotype of infantile onset Pompe?","author":"Broomfield","year":"2017","journal-title":"JIMD Rep."},{"issue":"4","key":"10.1016\/j.ymgme.2017.10.005_bb0125","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1002\/mus.23659","article-title":"Basilar artery aneurysm: a new finding in classic infantile Pompe disease","volume":"47","author":"Patel","year":"2013","journal-title":"Muscle Nerve"},{"issue":"s1","key":"10.1016\/j.ymgme.2017.10.005_bb0130","doi-asserted-by":"crossref","first-page":"S14","DOI":"10.3233\/JND-159014","article-title":"A case of normal pressure hydrocephalus in adult-onset Pompe disease","volume":"2","author":"D'Amico","year":"2015","journal-title":"J. Neuromuscul. Dis."},{"issue":"16","key":"10.1016\/j.ymgme.2017.10.005_bb0135","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.2174\/138161208784705504","article-title":"Lysosomal storage diseases and the blood-brain barrier","volume":"14","author":"Begley","year":"2008","journal-title":"Curr. Pharm. Des."},{"issue":"3","key":"10.1016\/j.ymgme.2017.10.005_bb0140","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1007\/s001090050101","article-title":"Role of macrophages\/microglia in multiple sclerosis and experimental allergic encephalomyelitis","volume":"75","author":"Benveniste","year":"1997","journal-title":"J. Mol. Med."},{"issue":"3","key":"10.1016\/j.ymgme.2017.10.005_bb0145","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1189\/jlb.68.3.413","article-title":"Mononuclear phagocytes mediate blood-brain barrier compromise and neuronal injury during HIV-1-associated dementia","volume":"68","author":"Persidsky","year":"2000","journal-title":"J. Leukoc. Biol."},{"issue":"1","key":"10.1016\/j.ymgme.2017.10.005_bb0150","first-page":"1","article-title":"Localization of merosin in the normal human brain: implications for congenital muscular dystrophy with merosin deficiency","volume":"28","author":"Villanova","year":"1996","journal-title":"J. Submicrosc. Cytol. Pathol."},{"issue":"3","key":"10.1016\/j.ymgme.2017.10.005_bb0155","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1016\/j.ymgme.2011.10.012","article-title":"Early cognitive development in children with infantile Pompe disease","volume":"105","author":"Spiridigliozzi","year":"2012","journal-title":"Mol. Genet. Metab."},{"issue":"2","key":"10.1016\/j.ymgme.2017.10.005_bb0160","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.ymgme.2017.04.014","article-title":"Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: a longitudinal follow-up","volume":"121","author":"Spiridigliozzi","year":"2017","journal-title":"Mol. Genet. Metab."},{"issue":"6","key":"10.1016\/j.ymgme.2017.10.005_bb0165","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1111\/j.1460-9592.2004.01242.x","article-title":"Anaesthetic management of infants with glycogen storage disease type II: a physiological approach","volume":"14","author":"Ing","year":"2004","journal-title":"Paediatr. Anaesth."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217306297?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217306297?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T23:21:25Z","timestamp":1761088885000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719217306297"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2]]},"references-count":33,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["S1096719217306297"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.10.005","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2018,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.10.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}