{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T12:25:32Z","timestamp":1763727932241,"version":"build-2065373602"},"reference-count":13,"publisher":"Elsevier BV","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":[[2021,2,12]],"date-time":"2021-02-12T00:00:00Z","timestamp":1613088000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2021,6]]},"DOI":"10.1016\/j.ymgmr.2021.100732","type":"journal-article","created":{"date-parts":[[2021,3,14]],"date-time":"2021-03-14T01:55:22Z","timestamp":1615686922000},"page":"100732","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"special_numbering":"C","title":["Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations"],"prefix":"10.1016","volume":"27","author":[{"given":"F.","family":"Ozkinay","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.A.","family":"Emecen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Kose","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Isik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.E.","family":"Bozaci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Canda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Tuysuz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Zubarioglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Atik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Onay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgmr.2021.100732_bb0005","doi-asserted-by":"crossref","first-page":"269","DOI":"10.2147\/TACG.S57672","article-title":"Sanfilippo syndrome: causes, consequences, and treatments","volume":"8","author":"Fedele","year":"2015","journal-title":"Appl. Clin. Genet."},{"issue":"3","key":"10.1016\/j.ymgmr.2021.100732_bb0010","doi-asserted-by":"crossref","first-page":"221","DOI":"10.3343\/alm.2013.33.3.221","article-title":"A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB","volume":"33","author":"Kim","year":"2013","journal-title":"Ann Lab Med."},{"issue":"6","key":"10.1016\/j.ymgmr.2021.100732_bb0015","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1007\/s10545-010-9199-y","article-title":"Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype","volume":"33","author":"Valstar","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"issue":"3","key":"10.1016\/j.ymgmr.2021.100732_bb0020","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/ajmg.c.30142","article-title":"Van Schrojenstein Lantman-de Valk HMJ, Spaapen L, Maaskant MA, Curfs LMG. Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?","volume":"145C","author":"Moog","year":"2007","journal-title":"Am. J. Med. Genet. C: Semin. Med. Genet."},{"issue":"6","key":"10.1016\/j.ymgmr.2021.100732_bb0030","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1515\/jpem-2019-0505","article-title":"Mucopolysaccharidosis III in Mainland China:natural history, clinical and molecularcharacteristics of 34 patients","volume":"33","author":"Kong","year":"2020","journal-title":"Pediatr. Endocrinol. Metab."},{"issue":"3","key":"10.1016\/j.ymgmr.2021.100732_bb0035","first-page":"331","article-title":"Sanfilippo syndrome: Overall review","volume":"57","author":"Andrade","year":"2015","journal-title":"Pediatr Int Off J Jpn Pediatr Soc."},{"issue":"1","key":"10.1016\/j.ymgmr.2021.100732_bb0040","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1750-1172-6-43","article-title":"Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)","volume":"6","author":"Valstar","year":"2011","journal-title":"Orphanet J Rare Dis."},{"issue":"9","key":"10.1016\/j.ymgmr.2021.100732_bb0045","doi-asserted-by":"crossref","DOI":"10.3390\/jcm8091467","article-title":"Ophthalmological findings in Mucopolysaccharidoses","volume":"8","author":"Tomatsu","year":"2019","journal-title":"J. Clin. Med."},{"issue":"4","key":"10.1016\/j.ymgmr.2021.100732_bb0050","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1002\/humu.1189","article-title":"Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: diagnostic, clinical, and biological implications","volume":"18","author":"Yogalingam","year":"2001","journal-title":"Hum. Mutat."},{"issue":"11","key":"10.1016\/j.ymgmr.2021.100732_bb0055","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1136\/jmg.35.11.910","article-title":"Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)","volume":"35","author":"Beesley","year":"1998","journal-title":"J. Med. Genet."},{"issue":"1","key":"10.1016\/j.ymgmr.2021.100732_bb0060","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1038\/sj.ejhg.5200242","article-title":"Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes","volume":"7","author":"Weber","year":"1999","journal-title":"Eur J Hum Genet EJHG."},{"issue":"1\u20132","key":"10.1016\/j.ymgmr.2021.100732_bb0065","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1006\/mgme.2000.3052","article-title":"Modifier genes convert \u2018simple\u2019 Mendelian disorders to complex traits","volume":"71","author":"Dipple","year":"2000","journal-title":"Mol. Genet. Metab."},{"issue":"1","key":"10.1016\/j.ymgmr.2021.100732_bb0070","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1086\/301682","article-title":"Genotype-phenotype correspondence in Sanfilippo syndrome type B","volume":"62","author":"Zhao","year":"1998","journal-title":"Am. J. Hum. Genet."}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426921000264?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426921000264?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:53:30Z","timestamp":1762001610000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426921000264"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6]]},"references-count":13,"alternative-id":["S2214426921000264"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2021.100732","relation":{},"ISSN":["2214-4269"],"issn-type":[{"type":"print","value":"2214-4269"}],"subject":[],"published":{"date-parts":[[2021,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2021.100732","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"100732"}}