{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T14:19:23Z","timestamp":1790518763337,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,12]],"date-time":"2017-12-12T00:00:00Z","timestamp":1513036800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Shire Human Genetic Therapies Inc."}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The Gaucher Outcome Survey (GOS) is an international Gaucher disease (GD) registry established in 2010 for patients with a confirmed GD diagnosis, regardless of GD type or treatment status, designed to evaluate the safety and long\u2010term effectiveness of velaglucerase alfa and other GD\u2010related treatments. As of February 25, 2017, 1209 patients had enrolled, the majority from Israel (44.3%) and the US (31.4%). Median age at GOS entry was 40.4 years, 44.1% were male, and 13.3% had undergone a total splenectomy. Most patients had type 1 GD (91.5%) and were of Ashkenazi Jewish ethnicity (55.8%). N370S\/N370S was the most prevalent genotype, accounting for 44.2% of genotype\u2010confirmed individuals (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009847); however, there was considerable variation between countries. A total of 887 (73.4%) patients had received \u22651 GD\u2010specific treatment at any time, most commonly imiglucerase (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009587), velaglucerase alfa (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009507), and alglucerase (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009102). Hematological and visceral findings at the time of GOS entry were close to normal for most patients, probably a result of previous treatment; however, spleen volume of patients in Israel was almost double that of patients elsewhere (7.2 multiples of normal [MN] vs. 2.7, 2.9 and 4.9 MN in the US, UK and rest of world), which may be explained by a greater disease severity in this cohort. This analysis aimed to provide an overview of GOS and present baseline demographic and disease characteristics of participating patients to help improve the understanding of the natural history of GD and inform the overall management of patients with the disease.\n                  <\/jats:p>","DOI":"10.1002\/ajh.24957","type":"journal-article","created":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T01:56:36Z","timestamp":1509501396000},"page":"205-212","source":"Crossref","is-referenced-by-count":57,"title":["Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)"],"prefix":"10.1002","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0077-8608","authenticated-orcid":false,"given":"Ari","family":"Zimran","sequence":"first","affiliation":[{"name":"Gaucher Clinic, Shaare Zedek Medical Center, affiliated with the Hebrew University\u2010Hadassah Medical School Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Belmatoug","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies Lysosomales H\u00f4pitaux universitaires Paris Nord Val de Seine, Assistance Publique\u2010H\u00f4pitaux de Paris, H\u00f4pital Beaujon, Service de M\u00e9decine Interne Clichy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Bembi","sequence":"additional","affiliation":[{"name":"Regional Coordinator Centre for Rare Diseases University Hospital \u201cSanta Maria della Misericordia\u201d Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Deegan","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Cambridge and Lysosomal Disorders Unit Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Elstein","sequence":"additional","affiliation":[{"name":"Shire Zug Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Fernandez\u2010Sasso","sequence":"additional","affiliation":[{"name":"Instituto William Osler Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Giraldo","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto Salud Carlos III Zaragoza Spain"},{"name":"Translational Research Unit, Aragon Institute of Health Research (IISAragon) Zaragoza Spain"},{"name":"Spanish Foundation for the Study and Therapy of Gaucher Disease (FEETEG) Zaragoza Spain"},{"name":"Unidad de Investigaci\u00f3n Traslacional, Pta Baja, Hospital Universitario Miguel Servet Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozlem","family":"Goker\u2010Alpan","sequence":"additional","affiliation":[{"name":"Lysosomal Disorders Unit and Center for Clinical Trials, O&amp;O Alpan, LLC Fairfax VA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Lau","sequence":"additional","affiliation":[{"name":"New York University Langone Medical Center New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Lukina","sequence":"additional","affiliation":[{"name":"Department of Orphan Diseases National Research Center for Hematology Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoya","family":"Panahloo","sequence":"additional","affiliation":[{"name":"Shire Zug Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida Vanessa D.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre Porto Alegre Brazil"},{"name":"Department of Genetics Universidade Federal do Rio Grande do Sul  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the GOS Study group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,12,12]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"Williams Hematology","author":"Zimran 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