{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T21:08:27Z","timestamp":1791752907458,"version":"4.3.4"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,8,4]],"date-time":"2010-08-04T00:00:00Z","timestamp":1280880000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["K24DK066306"],"award-info":[{"award-number":["K24DK066306"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004329","name":"Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Focal splenic lesions (FSL) occur in Gaucher disease type I (GD1), but their clinical significance is not known. Previous studies estimated the prevalence of FSL at 4% (pediatric) to 33% (adult) of GD1 patients and reported an association with splenomegaly. We tested the hypothesis that the presence of FSL is associated with suboptimal response to macrophage\u2010directed enzyme replacement therapy (ERT). Additionally we investigated whether FSL were associated with other phenotypic features of GD1. The splenic parenchyma was assessed by MRI performed for routine evaluation of GD1 in 239 consecutive GD1 patients with intact spleens. The prevalence of FSL was 18.4% (44\/239). Following a mean of 3.5 years of ERT, platelet response was inferior among patients with FSL (80,700\u2009\u00b1\u20099,600 to 90,100\u2009\u00b1\u20097,200\/mm<jats:sup>3<\/jats:sup>\u2009, <jats:italic>P<\/jats:italic>\u2009=\u20090.2) compared to patients without FSL in whom there was a robust platelet response: 108,600\u2009\u00b1\u20095,670 to 150,200\u2009\u00b1\u20096,710\/mm<jats:sup>3<\/jats:sup>, <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001. Compared to patients without FSL, patients harboring FSL had worse thrombocytopenia (platelet count: 83,700\u2009\u00b1\u20098,800 vs. 112,100\u2009\u00b1\u20094,200\/mm<jats:sup>3<\/jats:sup>, <jats:italic>P<\/jats:italic>\u2009=\u20090.004), greater frequency of pre\u2010ERT splenomegaly, and greater post\u2010ERT splenomegaly (8.5\u2009\u00b1\u20090.77 vs. 4.8\u2009\u00b1\u20090.25\u00d7 normal, <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001). Additionally, the prevalence of osteonecrosis was higher among patients with FSL compared to patients without FSL (38 vs. 20.7%, <jats:italic>P<\/jats:italic>\u2009=\u20090.026). FSL appear to be a determinant of response to ERT, suggesting studies comparing relative efficacy of newly emerging therapies for GD1 should adjust for this factor. Moreover, occurrences of FSL coincide with more severe manifestations of GD1 such as avascular osteonecrosis.<\/jats:p>","DOI":"10.1007\/s10545-010-9175-6","type":"journal-article","created":{"date-parts":[[2010,8,3]],"date-time":"2010-08-03T08:56:22Z","timestamp":1280825782000},"page":"769-774","source":"Crossref","is-referenced-by-count":39,"title":["Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage\u2010targeted enzyme replacement therapy"],"prefix":"10.1002","volume":"33","author":[{"given":"Philip","family":"Stein","sequence":"first","affiliation":[{"name":"Department of Pediatrics, National Gaucher Disease Treatment Center Yale University School of Medicine 333 Cedar Street New Haven CT LMP 409306562 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Advitya","family":"Malhotra","sequence":"additional","affiliation":[{"name":"Department of Medicine The University of Texas Medical Branch Galveston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Haims","sequence":"additional","affiliation":[{"name":"Department of Radiology, National Gaucher Disease Treatment Center Yale University School of Medicine 333 Cedar Street New Haven CT 06562 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory M.","family":"Pastores","sequence":"additional","affiliation":[{"name":"Department of Neurology NYU School of Medicine New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pramod K.","family":"Mistry","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology and Hepatology, National Gaucher Disease Treatment Center Yale University School of Medicine LMP 4093 P.O. Box 208064, 333 Cedar Street New Haven CT 06520 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,8,4]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199105233242104"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.158.16.1754"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2559.2002.1179c.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-008-0811-3"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.2214\/AJR.07.3550"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-9024-7"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61522-6"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.184.2.1620865"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.160.3.3526400"},{"key":"e_1_2_6_11_1","first-page":"177","article-title":"The pathology of Gaucher disease","volume":"95","author":"Lee RE","year":"1982","journal-title":"Prog Clin Biol Reg"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8652(199705)55:1<28::AID-AJH5>3.0.CO;2-5"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003300101031"},{"key":"e_1_2_6_14_1","first-page":"6","article-title":"Gaucher disease: complexity in a simple disorder","volume":"83","author":"Sidransky E","year":"2004","journal-title":"Mol Genet Med"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.21362"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(02)01150-6"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199211000-00002"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(94)90042-6"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9175-6","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-010-9175-6","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9175-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T14:32:44Z","timestamp":1694788364000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-010-9175-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,4]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1007\/s10545-010-9175-6"],"URL":"https:\/\/doi.org\/10.1007\/s10545-010-9175-6","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,4]]}}}