{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T14:50:29Z","timestamp":1766760629529},"reference-count":21,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,3,23]],"date-time":"2012-03-23T00:00:00Z","timestamp":1332460800000},"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":[[2012,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteopenia is described as a relevant sign of bone involvement in Gaucher disease (GD) both in pediatric and adult patients. Furthermore, abnormal bone metabolism is considered to play a role in growth and pubertal delay. To analyze the long\u2010term effect of enzyme replacement therapy (ERT) on bone mineral density (BMD), a retrospective observational study was conducted in a cohort of 18 GD pediatric patients (13 males, 5 females; median age 9.2 years). They received biweekly infusions of 20\u201060 IU\/kg of alglucerase\/imiglucerase. Clinical, laboratory and imaging parameters were evaluated every 2 years. According to the International Society of Clinical Densitometry guidelines, a Z\u2010score\u2009\u2264\u2009\u20102.0 was considered pathological. Nine patients (group P0) began ERT during infancy and nine (group P1) during puberty. At baseline, in three patients (16.6 %; 1P0, 2P1) Z\u2010score was\u2009\u2264\u2009\u20102.0 (range \u20102.47 to \u20102.25). In patient P0 it normalized after 2 years, while in the 2P1 patients (splenectomized siblings) it persisted abnormal. The remaining 15 patients (83.4 %) always presented a normal value. In group P0, Z\u2010score improved in infancy but showed a significant decrease during puberty, on the contrary it constantly improved in group P1. Furthermore, at baseline group P0 showed a higher median Z\u2010score than group P1: 0.79 (0.38; 1.50) and \u20101.61 (\u20102.25; \u20101.56) respectively. The use of correct BMD standards to interpret bone loss during pediatric age suggests a limited significance of bone loss in these patients. Moreover, the persistence of residual disease activity may affect normal bone growth during puberty in GD populations.<\/jats:p>","DOI":"10.1007\/s10545-012-9476-z","type":"journal-article","created":{"date-parts":[[2012,3,23]],"date-time":"2012-03-23T10:39:17Z","timestamp":1332499157000},"page":"1101-1106","source":"Crossref","is-referenced-by-count":7,"title":["Long\u2010term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients"],"prefix":"10.1002","volume":"35","author":[{"given":"Giovanni","family":"Ciana","sequence":"first","affiliation":[{"name":"Regional Coordinator Centre for Rare Diseases University Hospital \u201cSanta Maria della Misericordia\u201d Piazzale Santa Maria della Misericordia 15 Udine 33100 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Deroma","sequence":"additional","affiliation":[{"name":"Regional Coordinator Centre for Rare Diseases University Hospital \u201cSanta Maria della Misericordia\u201d Piazzale Santa Maria della Misericordia 15 Udine 33100 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Martina","family":"Franzil","sequence":"additional","affiliation":[{"name":"Pediatric Department Ospedale degli Infermi Via Caraccio 5 Biella 13900 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Dardis","sequence":"additional","affiliation":[{"name":"Regional Coordinator Centre for Rare Diseases University Hospital \u201cSanta Maria della Misericordia\u201d Piazzale Santa Maria della Misericordia 15 Udine 33100 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Bembi","sequence":"additional","affiliation":[{"name":"Regional Coordinator Centre for Rare Diseases University Hospital \u201cSanta Maria della Misericordia\u201d Piazzale Santa Maria della Misericordia 15 Udine 33100 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