{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:36:11Z","timestamp":1790472971668,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,1,27]],"date-time":"2005-01-27T00:00:00Z","timestamp":1106784000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2005,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is an autosomal recessive disease that is caused by the deficiency of the lysosomal enzyme \u03b1\u2010<jats:italic>N<\/jats:italic>\u2010acetylglucosaminidase (NAGLU). NAGLU is involved in the degradation of the glycosaminoglycan (GAG) heparan sulphate, and a deficiency results in the accumulation of partially degraded GAGs inside lysosomes. Early clinical symptoms include hyperactivity, aggressiveness and delayed development, followed by progressive mental deterioration, although there are a small number of late\u2010onset attenuated cases. The gene for NAGLU has been fully characterized and we report the molecular analysis of 18 Sanfilippo B families. In total, 34 of the 36 mutant alleles were characterized in this study and 20 different mutations were identified including 8 novel changes (R38W, V77G, 407\u2013410del4, 703delT, A246P, Y335C, 1487delT, E639X). The four novel missense mutations were transiently expressed in Chinese hamster ovary cells and all were shown to decrease the NAGLU activity markedly, although A246P did produce 12.7% residual enzyme activity.<\/jats:p>","DOI":"10.1007\/s10545-005-0093-y","type":"journal-article","created":{"date-parts":[[2005,9,7]],"date-time":"2005-09-07T19:05:23Z","timestamp":1126119923000},"page":"759-767","source":"Crossref","is-referenced-by-count":45,"title":["Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)"],"prefix":"10.1002","volume":"28","author":[{"given":"C. E.","family":"Beesley","sequence":"first","affiliation":[{"name":"Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health University College London  London UK"},{"name":"Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health University College London  30 Guilford Street London WC1N 1EH UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Jackson","sequence":"additional","affiliation":[{"name":"Chemical Pathology Great Ormond Street Hospital for Children NHS Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. P.","family":"Young","sequence":"additional","affiliation":[{"name":"Chemical Pathology Great Ormond Street Hospital for Children NHS Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Vellodi","sequence":"additional","affiliation":[{"name":"Metabolic Unit Great Ormond Street Hospital for Children NHS Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. G.","family":"Winchester","sequence":"additional","affiliation":[{"name":"Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,1,27]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"343","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Antonarakis SE","year":"2001"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.021501"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.11.910"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0009-9163.2004.00210.x"},{"key":"e_1_2_1_6_1","first-page":"28","article-title":"Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel \u03b1\u2010N\u2010acetylglucosaminidase gene mutations","volume":"36","author":"Bunge S","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005627311402"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.8.658"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/35.7.1472"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01804384"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9009"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.9.3606"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.2.e3"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530308"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00217.x"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470732"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970080106"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/301685"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2222.1998.00312.x"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380200070"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000429"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01821.x"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.6.771"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200242"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1006\/prep.2000.1361"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(77)90126-7"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1189"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.12.6101"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1086\/301682"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1006\/prep.2000.1230"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0093-y","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0093-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T01:12:10Z","timestamp":1694740330000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-0093-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1,27]]},"references-count":30,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,9]]}},"alternative-id":["10.1007\/s10545-005-0093-y"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-0093-y","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,1,27]]}}}