{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T13:38:08Z","timestamp":1790861888712,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[1992,1,6]],"date-time":"1992-01-06T00:00:00Z","timestamp":694656000000},"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":[[1992,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>A male Nubian goat (SD\u20101) presented at birth with neurological manifestations consistent with a lysosomal storage disease. Histological studies of tissue obtained at autopsy suggested glycosaminoglycan storage. Total urinary glycosaminoglycan levels, as measured by the uronic acid method, were elevated but overlapped with levels in a younger control goat. However,<jats:italic>N<\/jats:italic>\u2010sulphate content was increased 2\u2010 to 5\u2010fold, suggestive of heparan sulphate excretion, and this elevation was confirmed by cellulose acetate electrophoresis. Further, urinary levels of free<jats:italic>N<\/jats:italic>\u2010acetylglucosamine 6\u2010sulphate were increased 6\u2010fold over controls, SD\u20101 cultured skin fibroblasts, labelled with [<jats:sup>35<\/jats:sup>S]sulphate, incorporated twice as much radioactivity into macromolecular material as did normal fibroblasts. Forty\u2010eight hours after removal of [<jats:sup>35<\/jats:sup>S]sulphate from the medium the SD\u20101 fibroblasts retained 58% of the label, whereas in control fibroblasts it had declined to 20%, indicative of [<jats:sup>35<\/jats:sup>S]proteoglycan storage in SD\u20101. The assay of fibroblast extracts revealed a profound deficiency of<jats:italic>N<\/jats:italic>\u2010acetylglucosamine 6\u2010sulphatase whereas eight other activities including<jats:italic>\u03b2<\/jats:italic>\u2010mannosidase, arylsulphatase B, iduronate 2\u2010sulphatase,<jats:italic>N<\/jats:italic>\u2010acetylgalactosamine 6\u2010sulphatase, and heparin sulphamidase were normal. Mixing of SD\u20101 sonicates with normal sonicates showed no evidence of an inhibitor, and mixing of SD\u20101 sonicates with Sanfilippo D cell sonicates yielded no activity. These data ruled out multiple sulphatase deficiency and suggested the first example of the human Sanfilippo syndrome, type D (<jats:italic>N<\/jats:italic>\u2010acetylglucosamine 6\u2010sulphatase deficiency) in goats.<\/jats:p>","DOI":"10.1007\/bf01800018","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:20:51Z","timestamp":1119374451000},"page":"760-768","source":"Crossref","is-referenced-by-count":54,"title":["<i>N<\/i>\u2010acetylglucosamine 6\u2010sulphatase deficiency in a Nubian goat: A model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID)"],"prefix":"10.1002","volume":"15","author":[{"given":"J. N.","family":"Thompson","sequence":"first","affiliation":[{"name":"Laboratory of Medical Genetics and Departments of Biochemistry and Pediatrics University of Alabama at Birmingham  609 Sparks Center Birmingham AL 35294"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Z.","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Pathology Michigan State University  East Lansing MI 48824"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Dawson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Chicago  Chicago IL 60637 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. S.","family":"Huffman","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics and Departments of Biochemistry and Pediatrics University of Alabama at Birmingham  609 Sparks Center Birmingham AL 35294"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1992,1,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114010"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V78.11.3081.3081"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(62)90095-7"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-2697(79)80113-X"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198611063151918"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)35155-4"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1974.tb12213.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(78)50048-7"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197911000-00018"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197911000-00001"},{"key":"e_1_2_1_12_1","first-page":"191","article-title":"Mucopolysaccharidosis VI Maroteaux\u2010Lamy syndrome","volume":"105","author":"Haskins ME","year":"1981","journal-title":"Am J Pathol"},{"key":"e_1_2_1_13_1","first-page":"980","article-title":"\u03b2\u2010Glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII","volume":"18","author":"Haskins ME","year":"1984","journal-title":"Pediatr Res"},{"key":"e_1_2_1_14_1","first-page":"183","volume-title":"Treatment of Genetic Diseases","author":"Haskins ME","year":"1991"},{"key":"e_1_2_1_15_1","first-page":"321","volume-title":"Bone Marrow Transplantation: Current Controversies","author":"Hoogerbrugge PM","year":"1989"},{"key":"e_1_2_1_16_1","first-page":"831","article-title":"Isolation and characterization ofN\u2010acetylglucosamine\u20106\u2010sulfate from the urine of a patient with Sanfilippo type D syndrome and its occurrence in normal urine","volume":"6","author":"Hopwood JJ","year":"1983","journal-title":"Biochem Int"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2290579"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.144321"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)69384-1"},{"key":"e_1_2_1_20_1","first-page":"A57","article-title":"Another inherited metabolic disease of goats?","volume":"43","author":"Jones MZ","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_21_1","volume-title":"Proc Int Conf Biolog Funct of Glycosphingolipids","author":"Jones MZ","year":"1990"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(71)90514-6"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)42985-7"},{"key":"e_1_2_1_24_1","first-page":"611","volume-title":"Heritable Disorders of Connective Tissue","author":"McKusick VA","year":"1972"},{"key":"e_1_2_1_25_1","first-page":"1343","volume-title":"Mendelian Inheritance in Man. Catalogs of autosomal dominant, autosomal recessive, and X\u2010linked phenotypes","author":"McKusick VA","year":"1990"},{"key":"e_1_2_1_26_1","first-page":"419","article-title":"A screening method for mucopolysacchari\u2010doses with increased urinary excretion of sulfatedN\u2010acetylhexosamines","volume":"22","author":"Nowakowski RW","year":"1990","journal-title":"Biochem Int"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.29.2.111"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.62.3.887"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(63)80279-6"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00663a005"},{"key":"e_1_2_1_31_1","first-page":"244","article-title":"Canine\u03b1\u2010l\u2010iduronidase deficiency: A model of mucopolysaccharidosis I","volume":"109","author":"Shull RM","year":"1982","journal-title":"Am J Pathol"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(79)90170-2"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.80.19.6091"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(78)90407-2"},{"key":"e_1_2_1_35_1","unstructured":"ThompsonJN JonesMZ DawsonG(1990)N\u2010acetylglucosamine 6\u2010sulfatase deficiency in cultured skin fibroblasts from an inbred Nubian goat.Vth International Congress on Inborn Errors of Metabolism W7.4.."},{"key":"e_1_2_1_36_1","first-page":"567","volume-title":"Techniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual","author":"Thompson JN","year":"1991"},{"key":"e_1_2_1_37_1","first-page":"207","article-title":"A murine model of mucopolysaccharidosis VII: Gross and microscopic findings in beta\u2010glucuronidase deficient mice","volume":"136","author":"Vogler C","year":"1990","journal-title":"Am J Pathol"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198611063151906"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01800018","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01800018","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T15:32:32Z","timestamp":1694878352000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01800018"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,1,6]]},"references-count":37,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1992,9]]}},"alternative-id":["10.1007\/BF01800018"],"URL":"https:\/\/doi.org\/10.1007\/bf01800018","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,1,6]]}}}