{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T12:32:11Z","timestamp":1784118731611,"version":"3.55.0"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,6,11]],"date-time":"2015-06-11T00:00:00Z","timestamp":1433980800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","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":["European J of Haematology"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gaucher disease (<jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content>) is the most common lysosomal disorder resulting from deficient activity of the \u03b2\u2010glucosidase enzyme that causes accumulation of glucosylceramide in the macrophage\u2013monocyte system. Notably, because of non\u2010specific symptoms and a lack of awareness, patients with <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content> experience long diagnostic delays. The aim of this study was to apply a diagnostic algorithm to identify <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content> type 1 among adults subjects referred to Italian haematology outpatient units because of splenomegaly and\/or thrombocytopenia and, eventually, to estimate the prevalence of <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content> in this selected population. One hundred and ninety\u2010six subjects (61 females, 135 males; mean age 47.8\u00a0\u00b1\u00a018.2\u00a0years) have been enrolled in the study and tested for \u03b2\u2010glucosidase enzyme activity on dried blood spot (<jats:styled-content style=\"fixed-case\">DBS<\/jats:styled-content>). Seven of 196 patients have been diagnosed with <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content>, (5 females and 2 males) with mean age 31.8\u00a0\u00b1\u00a08.2\u00a0years, with a prevalence of 3.6% (with a prevalence of 3.6% (I95% CI 1.4\u20137.2; 1\/28 patients) in this population. These results show that the use of an appropriate diagnostic algorithm and a simple diagnostic method, such as <jats:styled-content style=\"fixed-case\">DBS<\/jats:styled-content>, are important tools to facilitate the diagnosis of a rare disease even for not disease\u2010expert physicians.<\/jats:p>","DOI":"10.1111\/ejh.12596","type":"journal-article","created":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T13:42:09Z","timestamp":1433166129000},"page":"352-359","source":"Crossref","is-referenced-by-count":37,"title":["A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and\/or Thrombocytopenia"],"prefix":"10.1111","volume":"96","author":[{"given":"Irene","family":"Motta","sequence":"first","affiliation":[{"name":"Department of Medicine and Medical Specialities Fondazione IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico Milan Italy"},{"name":"Department of Clinical Sciences and Community Health University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirella","family":"Filocamo","sequence":"additional","affiliation":[{"name":"Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche Istituto Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Poggiali","sequence":"additional","affiliation":[{"name":"Department of Medicine and Medical Specialities Fondazione IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico Milan Italy"},{"name":"Department of Clinical Sciences and Community Health University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Stroppiano","sequence":"additional","affiliation":[{"name":"Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche Istituto Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Dragani","sequence":"additional","affiliation":[{"name":"Department of Hematology Ospedale Civile Spirito Santo Pescara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"Consonni","sequence":"additional","affiliation":[{"name":"Epidemiology Unit Fondazione IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilma","family":"Barcellini","sequence":"additional","affiliation":[{"name":"Hematology and Bone Marrow Transplant Unit Fondazione IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Gaidano","sequence":"additional","affiliation":[{"name":"SCDU Ematologia Dipartimento di Medicina Traslazionale Universit\u00e0 del Piemonte Orientale Amedeo Avogadro Novara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Facchini","sequence":"additional","affiliation":[{"name":"Hematology Unit AO S. Maria Nuova IRCCS Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgina","family":"Specchia","sequence":"additional","affiliation":[{"name":"Department of Emergency and Organ Transplantation (D.E.T.O.) Hematology Section University of Bari Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Domenica","family":"Cappellini","sequence":"additional","affiliation":[{"name":"Department of Medicine and Medical Specialities Fondazione IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico Milan Italy"},{"name":"Department of Clinical Sciences and Community Health University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Splenomegaly Gaucher Disease study group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,6,11]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1615\/CritRevOncog.2013006060"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90319-4"},{"key":"e_1_2_8_4_1","first-page":"158","article-title":"Leukocyte beta\u2010glucosidase in homozygotes and heterozygotes for Gaucher disease","volume":"32","author":"Raghavan SS","year":"1980","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejim.2013.09.006"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(02)01150-6"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61522-6"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2004.09.004"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.4227"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.20908"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2012.11.004"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-04-308890"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12325-014-0174-0"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.21888"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2008.08.024"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2014.06.005"},{"key":"e_1_2_8_17_1","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1002\/9780470773666","volume-title":"Statistical Methods in Medical Research","author":"Armitage P","year":"2002"},{"key":"e_1_2_8_18_1","volume-title":"GeneReviews [Internet]","author":"Pastores GM","year":"1993"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.12890\/2014"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2012.04.002"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.it.2011.03.007"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.21721"}],"container-title":["European Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fejh.12596","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ejh.12596","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T23:46:08Z","timestamp":1696290368000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ejh.12596"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,11]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,4]]}},"alternative-id":["10.1111\/ejh.12596"],"URL":"https:\/\/doi.org\/10.1111\/ejh.12596","archive":["Portico"],"relation":{},"ISSN":["0902-4441","1600-0609"],"issn-type":[{"value":"0902-4441","type":"print"},{"value":"1600-0609","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,6,11]]}}}