{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T12:02:14Z","timestamp":1761393734838,"version":"build-2065373602"},"reference-count":10,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,6]]},"abstract":"<jats:p>We report on two adolescent sisters with Sanfilippo syndrome type D with some clinical features different from other cases previously described. They are the oldest cases reported to date and provide new clues about the course of the disease. Enzymatic and immunological characterisation of the patients' fibroblasts indicated deficiency of N-acetylglucosamine-6-sulphate sulphatase (GlcNAc-6S sulphatase). However, Northern blot analysis showed apparently normal mRNA encoding GlcNAc-6S sulphatase. These findings suggest that abnormal translation or premature degradation may be responsible for the enzyme defect in these cases of Sanfilippo syndrome type D.<\/jats:p>","DOI":"10.1136\/jmg.28.6.402","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"402-405","source":"Crossref","is-referenced-by-count":17,"title":["Sanfilippo syndrome type D in two adolescent sisters."],"prefix":"10.1136","volume":"28","author":[{"given":"L","family":"Siciliano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Fiumara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Pavone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Freeman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C P","family":"Morris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J J","family":"Hopwood","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Di Natale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Musumeci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A L","family":"Horwitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,6,1]]},"reference":[{"key":"ref_1","first-page":"1565","article-title":"The mucopolysaccharidoses","volume-title":"The metabolic basis of inherited diseases","author":"Neufeld, E.F.; Muenzer, J.","year":"1989","unstructured":"Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited diseases. New York: McGraw-Hill, 1989:1565-87."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1007\/BF00441147","article-title":"Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III","volume":"138","author":"Gatti, R.; Borrone, C.; Durand, P.","year":"1982","unstructured":"Gatti R, Borrone C, Durand P, et al. Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III. 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Biochem Biophys Res Commun 1988;157: 218-24.","journal-title":"Biochem Biophys Res Commun"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/0003-2697(89)90303-5","article-title":"Sanfilippo D syndrome: estimation of N-acetylglucosamine-6-sulfatase activity with a radiolabelled monosulfated disaccharide substrate","volume":"176","author":"Freeman, C.; Hopwood, J.J.","year":"1989","unstructured":"Freeman C, Hopwood JJ. Sanfilippo D syndrome: estimation of N-acetylglucosamine-6-sulfatase activity with a radiolabelled monosulfated disaccharide substrate. Anal Biochem 1989;176: 244-8.","journal-title":"Anal Biochem"},{"key":"ref_8","first-page":"156","article-title":"Single-step method of RNA isolation by acid guanidinium thiocynate-phenol-chloroform extraction","volume":"162","author":"Chomczynski, P.; Sacchi, N.","year":"1987","unstructured":"Chomczynski P, Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocynate-phenol-chloroform extraction. Anal Biochem 1987;162:156-9.","journal-title":"Anal Biochem"},{"key":"ref_9","first-page":"1184","article-title":"Isolation of cDNA clones coding for the beta-subunit","volume-title":"of human beta-hexosaminidase. Proc Natl Acad Sci USA 1985; 2","author":"O'Dowd, B.F.; Quan, F.; Willard, H.F.","unstructured":"O'Dowd BF, Quan F, Willard HF, et al. Isolation of cDNA clones coding for the beta-subunit of human beta-hexosaminidase. Proc Natl Acad Sci USA 1985;2:1184-8."},{"key":"ref_10","first-page":"152","article-title":"Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (type","volume":"20","author":"de Kamp JJP, Van; MF, Niermeijer; von Figura K; NAH, Giesberts","year":"1981","unstructured":"Van de Kamp JJP, Niermeijer MF, von Figura K, Giesberts NAH. Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (type A, B and C). Clin Genet 1981;20: 152-60.","journal-title":"A, B and C). Clin Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.28.6.402","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:22:29Z","timestamp":1760761349000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.28.6.402"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,6]]},"references-count":10,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1991,6,1]]},"published-print":{"date-parts":[[1991,6]]}},"alternative-id":["10.1136\/jmg.28.6.402"],"URL":"https:\/\/doi.org\/10.1136\/jmg.28.6.402","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1991,6]]}}}