{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T06:53:34Z","timestamp":1793170414336,"version":"4.5.0"},"reference-count":31,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T00:00:00Z","timestamp":1496275200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,5,1]],"date-time":"2017-05-01T00:00:00Z","timestamp":1493596800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U54NS065768"],"award-info":[{"award-number":["U54NS065768"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2017,6]]},"DOI":"10.1016\/j.ymgme.2017.04.011","type":"journal-article","created":{"date-parts":[[2017,4,29]],"date-time":"2017-04-29T05:31:26Z","timestamp":1493443886000},"page":"170-179","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":84,"title":["Infantile gangliosidoses: Mapping a timeline of clinical changes"],"prefix":"10.1016","volume":"121","author":[{"given":"Jeanine R.","family":"Jarnes Utz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly","family":"King","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Ziegler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn","family":"Schema","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelyn S.","family":"Redtree","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chester B.","family":"Whitley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2017.04.011_bb0005","series-title":"Pediatric Endocrinology and Inborn Errors of Metabolism","first-page":"738","author":"Sarafoglou","year":"2009"},{"key":"10.1016\/j.ymgme.2017.04.011_bb0010","series-title":"Lysosomal Storage Disorders","author":"Barranger","year":"2007"},{"issue":"5","key":"10.1016\/j.ymgme.2017.04.011_bb0015","doi-asserted-by":"crossref","first-page":"e1233","DOI":"10.1542\/peds.2011-0078","article-title":"Natural history of infantile G(M2) gangliosidosis","volume":"128","author":"Bley","year":"2011","journal-title":"Pediatrics"},{"issue":"2","key":"10.1016\/j.ymgme.2017.04.011_bb0020","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1111\/j.1469-8749.2011.04160.x","article-title":"GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed","volume":"54","author":"Smith","year":"2012","journal-title":"Dev. Med. Child Neurol."},{"issue":"Suppl. 1","key":"10.1016\/j.ymgme.2017.04.011_bb0025","first-page":"663","article-title":"The GM1 and GM2 gangliosidoses: natural history and progress toward therapy","volume":"13","author":"Regier","year":"2016","journal-title":"Pediatr. Endocrinol. Rev."},{"key":"10.1016\/j.ymgme.2017.04.011_bb0030","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/8904_2015_451","article-title":"Clinical findings and natural history in ten unrelated families with juvenile and adult GM1 gangliosidosis","volume":"24","author":"Kannebley","year":"2015","journal-title":"JIMD Rep."},{"issue":"5","key":"10.1016\/j.ymgme.2017.04.011_bb0035","doi-asserted-by":"crossref","first-page":"e1550","DOI":"10.1542\/peds.2006-0588","article-title":"The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported","volume":"118","author":"Maegawa","year":"2006","journal-title":"Pediatrics"},{"issue":"2","key":"10.1016\/j.ymgme.2017.04.011_bb0040","first-page":"107","article-title":"Late-onset Tay-Sachs disease","volume":"6","author":"Neudorfer","year":"2004","journal-title":"Isr. Med. Assoc. J."},{"issue":"6","key":"10.1016\/j.ymgme.2017.04.011_bb0045","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1001\/archneur.62.6.989","article-title":"The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis","volume":"62","author":"Frey","year":"2005","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ymgme.2017.04.011_bb0050","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/j.ymgmr.2014.06.002","article-title":"Natural history of motor neuron disease in adult onset GM2-gangliosidosis: a case report with 25 years of follow-up","volume":"1","author":"Scarpelli","year":"2014","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"2","key":"10.1016\/j.ymgme.2017.04.011_bb0055","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.ymgme.2015.12.002","article-title":"Enzyme replacement for GM1 gangliosidosis: uptake, lysosomal activation, and cellular disease correction using a novel \u03b2-galactosidase:RTB lectin fusion","volume":"117","author":"Condori","year":"2016","journal-title":"Mol. Genet. Metab."},{"issue":"2","key":"10.1016\/j.ymgme.2017.04.011_bb0060","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1212\/01.wnl.0000194225.78917.de","article-title":"Substrate reduction therapy in the infantile form of Tay-Sachs disease","volume":"66","author":"Bembi","year":"2006","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.ymgme.2017.04.011_bb0065","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.ymgme.2009.04.013","article-title":"Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis","volume":"97","author":"Maegawa","year":"2009","journal-title":"Mol. Genet. Metab."},{"issue":"6","key":"10.1016\/j.ymgme.2017.04.011_bb0070","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1097\/GIM.0b013e3181a1b5c5","article-title":"Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment","volume":"11","author":"Shapiro","year":"2009","journal-title":"Genet. Med."},{"issue":"5","key":"10.1016\/j.ymgme.2017.04.011_bb0075","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1007\/s10545-011-9368-7","article-title":"Gastrointestinal disturbances and their management in miglustat-treated patients","volume":"34","author":"Belmatoug","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"issue":"3","key":"10.1016\/j.ymgme.2017.04.011_bb0080","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1080\/00498250601094543","article-title":"The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat","volume":"37","author":"Treiber","year":"2007","journal-title":"Xenobiotica"},{"issue":"6","key":"10.1016\/j.ymgme.2017.04.011_bb0085","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1111\/j.1471-4159.2010.06733.x","article-title":"Restricted ketogenic diet enhances the therapeutic action of N-butyldeoxynojirimycin towards brain GM2 accumulation in adult Sandhoff disease mice","volume":"113","author":"Denny","year":"2010","journal-title":"J. Neurochem."},{"key":"10.1016\/j.ymgme.2017.04.011_bb0090","first-page":"8","article-title":"Measurement of health outcomes: reliability, validity and responsiveness","volume":"18","author":"Roach","year":"2006","journal-title":"Am. Acad. Orthotists Prosthetists"},{"key":"10.1016\/j.ymgme.2017.04.011_bb0095","author":"Bayley"},{"key":"10.1016\/j.ymgme.2017.04.011_bb0100","author":"Sparrow"},{"key":"10.1016\/j.ymgme.2017.04.011_bb0105","series-title":"Zavesca (Miglustat) Full Prescribing Information","year":"2016"},{"key":"10.1016\/j.ymgme.2017.04.011_bb0110","series-title":"Caring for Children Who Have Severe Neurological Impairment: A Life With Grace","author":"Hauer","year":"2013"},{"key":"10.1016\/j.ymgme.2017.04.011_bb0115","series-title":"Summary of Product Characteristics: Zavesca","year":"2012"},{"issue":"7","key":"10.1016\/j.ymgme.2017.04.011_bb0120","doi-asserted-by":"crossref","DOI":"10.3390\/ijms17071065","article-title":"Less is more: substrate reduction therapy for lysosomal storage disorders","volume":"17","author":"Coutinho","year":"2016","journal-title":"Int. J. Mol. Sci."},{"issue":"6","key":"10.1016\/j.ymgme.2017.04.011_bb0125","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1177\/0884533608326138","article-title":"An overview of the ketogenic diet for pediatric epilepsy","volume":"23","author":"Zupec-Kania","year":"2008","journal-title":"Nutr. Clin. Pract."},{"issue":"5","key":"10.1016\/j.ymgme.2017.04.011_bb0130","first-page":"274","article-title":"Enteral and parenteral applications of ketogenic diet therapy","volume":"3","author":"Zupec-Kania","year":"2011","journal-title":"ICAN"},{"issue":"2","key":"10.1016\/j.ymgme.2017.04.011_bb0135","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1111\/j.1528-1167.2008.01765.x","article-title":"Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group","volume":"50","author":"Kossoff","year":"2009","journal-title":"Epilepsia"},{"issue":"5","key":"10.1016\/j.ymgme.2017.04.011_bb0140","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1046\/j.1365-2990.2002.00422.x","article-title":"Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis","volume":"28","author":"Jeyakumar","year":"2002","journal-title":"Neuropathol. Appl. Neurobiol."},{"issue":"6","key":"10.1016\/j.ymgme.2017.04.011_bb0145","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1177\/088307380401900610","article-title":"Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients","volume":"19","author":"Nalini","year":"2004","journal-title":"J. Child Neurol."},{"issue":"1","key":"10.1016\/j.ymgme.2017.04.011_bb0150","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.nmd.2004.10.009","article-title":"Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial","volume":"15","author":"Klinge","year":"2005","journal-title":"Neuromuscul. Disord."},{"issue":"Suppl. 1","key":"10.1016\/j.ymgme.2017.04.011_bb0155","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1634\/theoncologist.2010-S1-13","article-title":"The role of the U.S. Food and Drug Administration review process: clinical trial endpoints in oncology","volume":"15","author":"McKee","year":"2010","journal-title":"Oncologist"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217301129?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217301129?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,23]],"date-time":"2024-06-23T21:19:17Z","timestamp":1719177557000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719217301129"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6]]},"references-count":31,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["S1096719217301129"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.04.011","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2017,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Infantile gangliosidoses: Mapping a timeline of clinical changes","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.04.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}