{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T14:44:11Z","timestamp":1769611451703,"version":"3.49.0"},"reference-count":0,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,1]],"date-time":"2005-06-01T00:00:00Z","timestamp":1117584000000},"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":[[2005,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>An early presentation of heparan <jats:italic>N<\/jats:italic>\u2010sulphatase (SGSH) deficiency (mucopolysaccharidosis IIIA, MPS IIIA) with a prominent and isolated hepato\u2010splenomegaly is described. Molecular analysis detected a nonsense mutation (Y40X) and two <jats:italic>de novo<\/jats:italic> missense mutations (E300V; Q307P).<\/jats:p>","DOI":"10.1007\/s10545-005-0601-0","type":"journal-article","created":{"date-parts":[[2005,5,17]],"date-time":"2005-05-17T12:50:32Z","timestamp":1116334232000},"page":"601-602","source":"Crossref","is-referenced-by-count":4,"title":["Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two <i>de novo<\/i> missense mutations in <i>SGSH<\/i> gene"],"prefix":"10.1002","volume":"28","author":[{"given":"S.","family":"Bekri","sequence":"first","affiliation":[{"name":"Department of Biochemistry Centre Hospitalier Universitaire de Nice  Nice"},{"name":"Department of Biochemistry Centre Hospitalier Universitaire de Nice  30, avenue de la voie Romaine Nice cedex 1 06002 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Armana","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Centre Hospitalier Universitaire de Nice  Nice"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. De","family":"Ricaud","sequence":"additional","affiliation":[{"name":"Lenval Foundation  Nice"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Osenda","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Centre Hospitalier Universitaire de Nice  Nice"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Maire","sequence":"additional","affiliation":[{"name":"Pediatric Biochemistry Department Debrousse Hospital  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. Van","family":"Obberghen","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Centre Hospitalier Universitaire de Nice  Nice"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Froissart","sequence":"additional","affiliation":[{"name":"Pediatric Biochemistry Department Debrousse Hospital  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0601-0","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0601-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T00:22:33Z","timestamp":1694737353000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-0601-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,6]]},"references-count":0,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,6]]}},"alternative-id":["10.1007\/s10545-005-0601-0"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-0601-0","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,6]]}}}