{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:25:18Z","timestamp":1777803918080,"version":"3.51.4"},"reference-count":9,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2013,6,12]],"date-time":"2013-06-12T00:00:00Z","timestamp":1370995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:p>Mucopolysaccharidosis-IIIB or Sanfilippo-B syndrome is caused by deficiency of lysosomal \u03b1- N-acetylglucosaminidase that leads to accumulation of heparan-sulphate and degeneration of central nervous system with progressive dementia, hyperactivity, and aggressive behavior. Mucopolysaccharidosis-III remains underdiagnosed as a cause of developmental delay and hyperactivity both in adults and children because in contrast to other mucopolysaccharidoses, they have little somatic disease, coarse facial features, hepatosplenomegaly or skeletal changes, and a high incidence of false-negative results on the urinary screening tests. We describe here a girl with the classic phenotype of mucopolysaccharidosis-IIIB to alert pediatricians to the possibility of this disorder in children with unexplained speech delay and hyperactivity and prevent unnecessary investigations.<\/jats:p>","DOI":"10.1177\/0883073813491627","type":"journal-article","created":{"date-parts":[[2013,6,12]],"date-time":"2013-06-12T22:44:47Z","timestamp":1371077087000},"page":"NP9-NP12","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Hyperactivity, Unexplained Speech Delay, and Coarse Facies\u2014Is It Sanfilippo Syndrome?"],"prefix":"10.1177","volume":"29","author":[{"given":"Arushi Gahlot","family":"Saini","sequence":"first","affiliation":[{"name":"Pediatric Neurology and Neurodevelopment, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pratibha","family":"Singhi","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Neurodevelopment, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jitendra Kumar","family":"Sahu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saptharishi L.","family":"Ganesan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sameer","family":"Vyas","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandeep","family":"Rao","sequence":"additional","affiliation":[{"name":"Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Man Updesh Singh","family":"Sachdeva","sequence":"additional","affiliation":[{"name":"Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2013,6,12]]},"reference":[{"key":"bibr1-0883073813491627","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0838-5"},{"key":"bibr2-0883073813491627","doi-asserted-by":"publisher","DOI":"10.1136\/adc.69.3.403"},{"key":"bibr3-0883073813491627","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30142"},{"key":"bibr4-0883073813491627","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9199-y"},{"key":"bibr5-0883073813491627","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20314"},{"key":"bibr6-0883073813491627","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.21912"},{"key":"bibr7-0883073813491627","doi-asserted-by":"publisher","DOI":"10.1186\/1742-2094-7-39"},{"key":"bibr8-0883073813491627","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/ker390"},{"key":"bibr9-0883073813491627","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.06.013"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073813491627","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073813491627","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073813491627","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:38:11Z","timestamp":1777495091000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073813491627"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,12]]},"references-count":9,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1177\/0883073813491627"],"URL":"https:\/\/doi.org\/10.1177\/0883073813491627","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,12]]}}}