{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T09:59:12Z","timestamp":1789207152152,"version":"build-2803163510"},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[1996,3,19]],"date-time":"1996-03-19T00:00:00Z","timestamp":827193600000},"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":[[1996,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We report on clinical and neuroradiological findings in two patients with fucosidosis type II; a 7\u2010year\u2010old Jordanian boy and a 3 1\/2\u2010year\u2010old Anglo\u2010Canadian girl. This rare, autosomal recessive disorder is caused by deficiency of lysosomal<jats:italic>\u03b1<\/jats:italic>\u2010fucosidase and is manifested clinically by progressive mental and motor deterioration, coarse facies, growth retardation, recurrent infections, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly and seizures. Cranial CT and magnetic resonance imaging showed density and signal abnormalities in the thalamus, globus pallidus and internal capsules bilaterally, as well as progressive CT density alterations in supratentorial white matter including the internal medullary laminae of the thalami and the internal capsules.<\/jats:p>","DOI":"10.1007\/bf01799172","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:37:24Z","timestamp":1119371844000},"page":"775-781","source":"Crossref","is-referenced-by-count":22,"title":["Evolution of the neuroimaging changes in fucosidosis type II"],"prefix":"10.1002","volume":"19","author":[{"given":"D.","family":"Terespolsky","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics, Department of Pediatrics and Genetics Hospital for Sick Children  University Avenue Toronto Ontario MG5 1X8 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. T. R.","family":"Clarke","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Pediatrics and Genetics Hospital for Sick Children  University Avenue Toronto Ontario MG5 1X8 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. I.","family":"Blaser","sequence":"additional","affiliation":[{"name":"Division of Neuroradiology, Department of Diagnostic Imaging Hospital for Sick Children  University Avenue Toronto Ontario MG5 1X8 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1996,3,19]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.172.2.2748819"},{"key":"e_1_2_1_3_1","first-page":"756","article-title":"Fucosidosis: A neuropathological study","volume":"97","author":"Bugiani O","year":"1976","journal-title":"Riv Patol Nerv Ment"},{"key":"e_1_2_1_4_1","first-page":"373","article-title":"Magnetic resonance imaging of brain iron","volume":"7","author":"Drayer B","year":"1986","journal-title":"AJNR"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(69)80464-6"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.34.4.451"},{"key":"e_1_2_1_7_1","first-page":"591","article-title":"Cranial CT in fucosidosis","volume":"2","author":"Kessler RM","year":"1981","journal-title":"AJNR"},{"key":"e_1_2_1_8_1","first-page":"809","article-title":"Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease","volume":"16","author":"Provenzale JM","year":"1995","journal-title":"AJNR"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-662-03078-3_12"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380125"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799172","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799172","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T12:26:18Z","timestamp":1694780778000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799172"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,3,19]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1996,11]]}},"alternative-id":["10.1007\/BF01799172"],"URL":"https:\/\/doi.org\/10.1007\/bf01799172","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,3,19]]}}}