{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T17:35:19Z","timestamp":1782927319931,"version":"3.54.5"},"reference-count":16,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100004484","name":"Tehran University of Medical Sciences and Health Services","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004484","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003968","name":"Iran National Science Foundation","doi-asserted-by":"publisher","award":["940012"],"award-info":[{"award-number":["940012"]}],"id":[{"id":"10.13039\/501100003968","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2021,6]]},"DOI":"10.1016\/j.nmd.2021.03.003","type":"journal-article","created":{"date-parts":[[2021,3,9]],"date-time":"2021-03-09T01:35:33Z","timestamp":1615253733000},"page":"528-531","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome"],"prefix":"10.1016","volume":"31","author":[{"given":"Marzieh","family":"Khani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hosein","family":"Shamshiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamidreza","family":"Moazzeni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanieh","family":"Taheri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamid","family":"Ahmadieh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afagh","family":"Alavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niloofar","family":"Farboodi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahriar","family":"Nafissi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elahe","family":"Elahi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2021.03.003_bib0001","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"},{"key":"10.1016\/j.nmd.2021.03.003_bib0002","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/S0925-4439(99)00074-5","article-title":"Biochemical consequences of mutations causing the GM2 gangliosidoses","volume":"1455","author":"Mahuran","year":"1999","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.nmd.2021.03.003_bib0003","doi-asserted-by":"crossref","first-page":"17377","DOI":"10.1074\/jbc.271.29.17377","article-title":"Identification of domains in human beta-hexosaminidase that determine substrate specificity","volume":"271","author":"Pennybacker","year":"1996","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2021.03.003_bib0004","first-page":"1","article-title":"Adult onset Sandhoff disease: a rare mimicker of amyotrophic lateral sclerosis","author":"Khoueiry","year":"2019","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"10.1016\/j.nmd.2021.03.003_bib0005","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1002\/ana.410190608","article-title":"N-acetyl-beta-hexosaminidase beta locus defect and juvenile motor neuron disease: a case study","volume":"19","author":"Cashman","year":"1986","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2021.03.003_bib0006","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1002\/ana.410170413","article-title":"Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration","volume":"17","author":"Mitsumoto","year":"1985","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2021.03.003_bib0007","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/0022-510X(88)90058-5","article-title":"Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency","volume":"87","author":"Rubin","year":"1988","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.nmd.2021.03.003_bib0008","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/1750-1172-3-9","article-title":"Brown-Vialetto-Van Laere syndrome","volume":"3","author":"Sathasivam","year":"2008","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.nmd.2021.03.003_bib0009","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1002\/ana.25689","article-title":"Natural history of adult patients with GM2 gangliosidosis","volume":"87","author":"Masingue","year":"2020","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2021.03.003_bib0010","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/S0022-510X(02)00007-2","article-title":"Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype","volume":"195","author":"Yoshizawa","year":"2002","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.nmd.2021.03.003_bib0011","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.clineuro.2018.02.011","article-title":"Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: panel based sequencing for differential diagnosis of gangliosidosis","volume":"167","author":"Mahdieh","year":"2018","journal-title":"Clin Neurol Neurosurg"},{"key":"10.1016\/j.nmd.2021.03.003_bib0012","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1186\/s13023-018-0876-5","article-title":"Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations","volume":"13","author":"Tavasoli","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.nmd.2021.03.003_bib0013","first-page":"112","article-title":"Novel mutations in Sandhoff disease: a molecular analysis among iranian cohort of infantile patients","volume":"41","author":"Aryan","year":"2012","journal-title":"Iran J Public Health"},{"key":"10.1016\/j.nmd.2021.03.003_bib0014","first-page":"55","article-title":"GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): diagnosis and neuroimaging findings (an Iranian pediatric case series)","volume":"8","author":"Karimzadeh","year":"2014","journal-title":"Iran J Child Neurol"},{"key":"10.1016\/j.nmd.2021.03.003_bib0015","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/ana.410110103","article-title":"Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype","volume":"11","author":"Johnson","year":"1982","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2021.03.003_bib0016","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1002\/ana.410240316","article-title":"Hexosaminidase A deficiency manifesting as spinal muscular atrophy of late onset","volume":"24","author":"Karni","year":"1988","journal-title":"Ann Neurol"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896621000675?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896621000675?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:11:14Z","timestamp":1760775074000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896621000675"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6]]},"references-count":16,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["S0960896621000675"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2021.03.003","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2021,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2021.03.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}