{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T13:37:38Z","timestamp":1790861858597,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2007,7,19]],"date-time":"2007-07-19T00:00:00Z","timestamp":1184803200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2007,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sanfilippo type B is an autosomal recessive mucopolysaccharidosis (MPS IIIB) caused by deficiency of <jats:italic>N<\/jats:italic>\u2010acetyl\u2010\u03b1\u2010<jats:sc>D<\/jats:sc>\u2010glucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulfate. It is characterized by neurologic degeneration, behavioral problems, and mental decline. Somatic features are relatively mild and patients with this disorder can reach late adulthood. It is the most common subtype of MPS in the Netherlands and probably underdiagnosed in adult persons with mental retardation (MR). In order to increase knowledge on the adult phenotype and natural history in Sanfilippo type B, we present the clinical data of 20 patients with this disorder. Sixteen of them were followed for one to three decades. Six died between 28 and 69 years of age, mainly from pneumonia and cachexia; the surviving patients were 18\u201363 years old. Apart from the youngest, they had lost mobility at 36\u201368 years. Most had developed physical problems, in particular in the 4th\u20136th decade of life: cardiac disease (cardiomyopathy, atrial fibrillations), arthritis, skin blistering, swallowing difficulties requiring feeding by a gastrostomy tube, and seizures. The course of the disease was dominated in most of them by challenging behavioral problems with restlessness, extreme screaming and hitting, difficult to prevent or to treat pharmaceutically. Even in absence of knowledge of the history of an elderly patient with MR, the presence of behavioral problems should prompt metabolic investigation for MPS. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30142","type":"journal-article","created":{"date-parts":[[2007,7,19]],"date-time":"2007-07-19T18:48:20Z","timestamp":1184870900000},"page":"293-301","source":"Crossref","is-referenced-by-count":58,"title":["Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?"],"prefix":"10.1002","volume":"145C","author":[{"given":"Ute","family":"Moog","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"van Mierlo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henny M.J.","family":"van Schrojenstein Lantman\u2010de Valk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leo","family":"Spaapen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marian A.","family":"Maaskant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leopold M.G.","family":"Curfs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,7,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2005.11.007"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0093-y"},{"key":"e_1_2_7_4_1","first-page":"28","article-title":"Mucopolysaccharidosis type IIIB (Sanfilippo B): Identification of 18 novel alpha\u2010N\u2010acetylglucosaminidase gene mutations","volume":"36","author":"Bunge S","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-005-0258-4"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.69.3.403"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1996.tb12114.x"},{"key":"e_1_2_7_8_1","first-page":"331","article-title":"Rational evaluation of the adolescent with mental retardation","volume":"13","author":"Curry CJ","year":"2002","journal-title":"Adolesc Med"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971112)72:4<468::AID-AJMG18>3.0.CO;2-P"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.620512.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2004.065482"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1089\/scd.2005.14.384"},{"key":"e_1_2_7_13_1","volume-title":"Oud en Zwakzinnig. 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