{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T10:15:21Z","timestamp":1778926521487,"version":"3.51.4"},"reference-count":26,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2016,10,13]],"date-time":"2016-10-13T00:00:00Z","timestamp":1476316800000},"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":[[2017,2]]},"abstract":"<jats:p>Mucopolysaccharidosis type III, or Sanfilippo syndrome, is an autosomal recessive disorder characterized by impairment in the degradation of Heparan sulfate. Here the authors describe the natural history of 5 related individuals; all associated through a large pedigree which reports a total of 11 affected members, originally from the Boyac\u00e1 region in Colombia, diagnosed with MPS IIIC who all harbor a novel mutation in HGSNAT. The authors report an unusually high incidence of the disease in this population. The clinical features are similar to previously described patients, although some differences in the degree of severity and end-stage of the disease are seen in this specific group. The authors consider that the high degree of endogamy in this specific population could underlie modifying factors for the severity of presentation in these patients. Future studies might provide more information on the functional effect of this novel mutation, which could define this group as a genetic isolate.<\/jats:p>","DOI":"10.1177\/0883073816672391","type":"journal-article","created":{"date-parts":[[2016,10,12]],"date-time":"2016-10-12T20:58:47Z","timestamp":1476305927000},"page":"177-183","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":13,"title":["Natural History of Sanfilippo Syndrome Type C in Boyac\u00e1, Colombia"],"prefix":"10.1177","volume":"32","author":[{"given":"Harvy Mauricio","family":"Velasco","sequence":"first","affiliation":[{"name":"Departamento de Morfolog\u00eda, Facultad de Medicina, Maestr\u00eda en Gen\u00e9tica Humana, Universidad Nacional de Colombia, Bogot\u00e1, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasmin","family":"Sanchez","sequence":"additional","affiliation":[{"name":"Neuropediatr\u00eda, Hospital San Rafael de Tunja, Universidad Pedag\u00f3gica y Tecnol\u00f3gica de Colombia, Tunja, Boyac\u00e1, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela Milena","family":"Martin","sequence":"additional","affiliation":[{"name":"Departamento de Morfolog\u00eda, Facultad de Medicina, Maestr\u00eda en Gen\u00e9tica Humana, Universidad Nacional de Colombia, Bogot\u00e1, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis A.","family":"Uma\u00f1a","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2016,10,13]]},"reference":[{"key":"bibr1-0883073816672391","first-page":"3421","volume-title":"The Metabolic and Molecular Basis of Inherited Disease","author":"Neufeld E","year":"2001","edition":"8"},{"key":"bibr2-0883073816672391","doi-asserted-by":"crossref","unstructured":"Van de Kamp JJ, Niermeijer MF, Von Figura K, Giesberts M. Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin Genet. 1981;20(2):152\u2013160. http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/6796310.","DOI":"10.1111\/j.1399-0004.1981.tb01821.x"},{"key":"bibr3-0883073816672391","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0838-5"},{"key":"bibr4-0883073816672391","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-43"},{"key":"bibr5-0883073816672391","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-189"},{"key":"bibr6-0883073816672391","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530308"},{"key":"bibr7-0883073816672391","doi-asserted-by":"publisher","DOI":"10.1086\/508068"},{"key":"bibr8-0883073816672391","doi-asserted-by":"publisher","DOI":"10.1086\/508294"},{"key":"bibr9-0883073816672391","doi-asserted-by":"crossref","unstructured":"Klein U, Kresse H, von Figura K. Sanfilippo syndrome type C: deficiency of acetyl-CoA: alpha-glucosaminide N-acetyltransferase in skin fibroblasts. 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