{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T11:57:58Z","timestamp":1773230278741,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,2,11]],"date-time":"2014-02-11T00:00:00Z","timestamp":1392076800000},"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":[[2014,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To determine the effectiveness of enzyme replacement therapies (ERT) for adults with Gaucher disease (GD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>A longitudinal, multi\u2010centre cohort study, including prospective and retrospective clinical data. Age\u2010 and gender\u2010adjusted treatment effects were estimated using generalised linear mixed models. Treated patients contributed data before and during treatment. Untreated patients contributed natural history data.<\/jats:p><\/jats:sec><jats:sec><jats:title>Participants<\/jats:title><jats:p>Consenting adults (<jats:italic>N<\/jats:italic>\u2009=\u2009150, aged 16 to 83 years) with a diagnosis of GD who attended a specialist treatment centre in England. At recruitment, 131 patients were receiving ERT (mean treatment duration, 10.8 years; range 0\u201318 years).<\/jats:p><\/jats:sec><jats:sec><jats:title>Outcome measures<\/jats:title><jats:p>Clinical outcomes chosen to reflect disease progression, included platelet count; haemoglobin; absence\/presence of bone pain; spleen and liver volumes and AST levels.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>One hundred and fifty adults were recruited. Duration of ERT was associated with statistically significant improvements in platelet count (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001), haemoglobin (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001), liver and spleen volumes (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001) and AST levels (<jats:italic>p<\/jats:italic>\u2009=\u20090.02).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These data provide further evidence of the long\u2010term effectiveness of ERT in adults with GD.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-014-9680-0","type":"journal-article","created":{"date-parts":[[2014,2,10]],"date-time":"2014-02-10T17:19:42Z","timestamp":1392052782000},"page":"953-960","source":"Crossref","is-referenced-by-count":8,"title":["Long\u2010term effectiveness of enzyme replacement therapy in adults with Gaucher disease: results from the NCS\u2010LSD cohort study"],"prefix":"10.1002","volume":"37","author":[{"given":"L. 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A.","family":"Hughes","sequence":"additional","affiliation":[{"name":"Department of Haematology, Royal Free Campus University College London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Waldek","sequence":"additional","affiliation":[{"name":"Salford Royal NHS Foundation Trust Salford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Logan","sequence":"additional","affiliation":[{"name":"Institute of Health Research University of Exeter Medical School Veysey Building, Salmon Pool Lane Exeter Devon EX2 4SG UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,2,11]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-2144"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq198"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)97611-8"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00769.x"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.3310\/hta10240"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02161-9"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0b013e3182057be4"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0121-6"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2010.07.008"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2011.04.005"},{"key":"e_1_2_10_12_1","unstructured":"European Medicines Agency(2009)Questions and answers on the shortages of Cerezyme and Fabrazyme.http:\/\/www.ema.europa.eu\/docs\/en_GB\/document_library\/Medicine_QA\/2009\/12\/WC500018393.pdf."},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-122-1-199501010-00005"},{"key":"e_1_2_10_14_1","first-page":"146","volume-title":"The online metabolic and molecular bases of inherited disease","author":"Grabowski GA","year":"2010"},{"key":"e_1_2_10_15_1","doi-asserted-by":"crossref","unstructured":"HenleyW AndersonLJ WyattKM NikolaouV AndersonR LoganS(2014)The NCS\u2010LSD cohort study: a description of the methods and analyses used to assess the long\u2010term effectiveness of enzyme replacement therapy and substrate reduction therapy in patients with Lysosomal Storage Disorders.JIMD Rep.","DOI":"10.1007\/s10545-014-9679-6"},{"issue":"9","key":"e_1_2_10_16_1","first-page":"627","article-title":"Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease","volume":"101","author":"Hsu CC","year":"2002","journal-title":"J Formos Med Assoc"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11926-000-0059-x"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003086-199905000-00029"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-198668060-00002"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.2002.0517"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.00978.x"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3201"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(02)01150-6"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00811.x"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.061004"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.3310\/hta16390"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2009.04.003"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-02-268649"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-014-9680-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T06:29:03Z","timestamp":1694759343000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-014-9680-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,11]]},"references-count":27,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["10.1007\/s10545-014-9680-0"],"URL":"https:\/\/doi.org\/10.1007\/s10545-014-9680-0","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,11]]}}}