{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:21:55Z","timestamp":1790043715819,"version":"4.0.1"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,9,22]],"date-time":"2004-09-22T00:00:00Z","timestamp":1095811200000},"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":[[2005,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The usefulness of bone turnover markers in Gaucher disease is still unclear and their utility in monitoring the effects of enzyme replacement therapy (ERT) on bone metabolism has not yet been investigated exhaustively. Skeletal involvement seems to improve slowly during ERT, but only a few studies evaluating bone mineral density (BMD) changes during a long follow\u2010up period have been reported. The aim of this study was to assess the efficacy of ERT on bone involvement in a group of 12 type I Gaucher disease (GD I) patients by monitoring biochemical indices of bone resorption\/formation and BMD measured by dual energy x\u2010ray absorptiometry (DEXA). Serum (calcium, phosphorus, bone alkaline phosphatase isoenzyme, carboxyterminal propeptide of type I procollagen (PICP), carboxyterminal telopeptide of type I collagen (ICTP), osteocalcin, intact parathyroid hormone) and urinary (calcium, phosphorus, hydroxyproline and free deoxypyridinoline) markers of bone metabolism and lumbar BMD were measured at baseline, after 6 and 12 months, and then every year for a mean ERT follow\u2010up period of 4.5 years (range 4.4\u20136 years). Twelve healthy adult subjects matched for age and sex were tested as negative controls. A significant decrease of PICP was detected in the patient group at baseline (mean value 100.52 ng\/ml vs 142.45 ng\/ml, <jats:italic>p<\/jats:italic> = 0.017), while ICTP was remarkably higher: mean value 3.93 ng\/ml vs 2.72 ng\/ml, <jats:italic>p<\/jats:italic> = 0.004 (two\u2010sided Student's <jats:italic>t<\/jats:italic>\u2010test). No changes in bone formation indices were observed during the follow\u2010up period, while urinary calcium excretion increased significantly from 0.065 to 0.191 mg\/mg creatinine (<jats:italic>p<\/jats:italic> = 0.0014) (repeated measures ANOVA). A significant BMD improvement was also detected after an average ERT period of 4.5 years: <jats:italic>Z<\/jats:italic>\u2010score increased from \u22120.81 to \u22120.56 (<jats:italic>p<\/jats:italic> = 0.005) (two\u2010sided Student's <jats:italic>t<\/jats:italic>\u2010test). These data evidenced the ineffectiveness of the biochemical markers used in monitoring ERT efficacy in GD I skeletal involvement, whereas DEXA was demonstrated to be a reliable method with which to follow up BMD improvement.<\/jats:p>","DOI":"10.1007\/s10545-005-0032-y","type":"journal-article","created":{"date-parts":[[2005,9,7]],"date-time":"2005-09-07T19:05:23Z","timestamp":1126119923000},"page":"723-732","source":"Crossref","is-referenced-by-count":51,"title":["Gaucher disease and bone: Laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy"],"prefix":"10.1002","volume":"28","author":[{"given":"G.","family":"Ciana","sequence":"first","affiliation":[{"name":"Unit\u00e0 di Malattie Metaboliche  Trieste Italy"},{"name":"Unit\u00e0 di Malattie Metaboliche, IRCCS \u2018Burlo Garofolo\u2019  Via dell\u2019Istria 65\/1 Trieste 34137 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Addobbati","sequence":"additional","affiliation":[{"name":"Unit\u00e0 di Malattie Metaboliche  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Tamaro","sequence":"additional","affiliation":[{"name":"Laboratorio di Analisi Chimico\u2010Cliniche  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Leopaldi","sequence":"additional","affiliation":[{"name":"Laboratorio di Analisi Chimico\u2010Cliniche  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Nevyjel","sequence":"additional","affiliation":[{"name":"Unit\u00e0 di Malattie Metaboliche  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Ronfani","sequence":"additional","affiliation":[{"name":"Unit\u00e0 di Epidemiologia, Istituto di Ricerca e Cura a Carattere Scientifico \u2018Burlo Garofolo\u2019  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Vidoni","sequence":"additional","affiliation":[{"name":"Unit\u00e0 Operativa di Ortopedia  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. G.","family":"Pittis","sequence":"additional","affiliation":[{"name":"Unit\u00e0 di Malattie Metaboliche  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Bembi","sequence":"additional","affiliation":[{"name":"Unit\u00e0 di Malattie Metaboliche  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,9,22]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/90.1.19"},{"key":"e_1_2_1_3_1","first-page":"205","article-title":"Cytokines and Gaucher's disease","volume":"10","author":"Barak V","year":"1999","journal-title":"Eur Cytokine Netw"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)90462-6"},{"key":"e_1_2_1_5_1","first-page":"3635","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Beutler E","year":"2001"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199709043371015"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-001-2072-0"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s001980070002"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.2001.0479"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0950-3536(97)80041-8"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s774-002-8444-1"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.147.5.943"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199104183241606"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.5650111125"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1259\/bjr.75.suppl_1.750025"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.139.6.1202"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.170.1.2909087"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.185.3.1438773"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.96.4.629"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.2002.0517"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-198509000-00003"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/45.8.1359"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-11-3854"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0032-y","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0032-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T01:12:25Z","timestamp":1694740345000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-0032-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,9,22]]},"references-count":22,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,9]]}},"alternative-id":["10.1007\/s10545-005-0032-y"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-0032-y","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,9,22]]}}}