{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T16:06:16Z","timestamp":1771603576726,"version":"3.50.1"},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Klin Padiatr"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\nPurpose We retrospectively assessed bone and visceral manifestations in patients with Gaucher disease type 1 (GD1) with whole-body magnetic resonance imaging (WB-MRI) to determine the effects of different timing in initiating long-term enzyme replacement therapy.<\/jats:p><jats:p>\nMaterials and Methods In 17 patients with GD1, we performed 2 WB-MRI examinations at a median interval of 13 months. Patients had received enzyme replacement therapy with alglucerase\/imiglucerase for a median of 13 years prior to the first examination. MRI results were retrospectively stratified based on treatment initiation into 2 groups: \u201cearly\u201d (age \u226412 years, median 5 years) and \u201clate\u201d (during adulthood, median 32 years). We evaluated occurrence of irreversible avascular necroses (AVN) and applied several semi-quantitative scores, including the Bone-Marrow-Burden (BMB) score, the D\u00fcsseldorf-Gaucher score (DGS), the Vertebra-Disc-Ratio (VDR), and the Gaucher disease type 1 Severity Scoring System (GD-DS3).<\/jats:p><jats:p>\nResults MRI assessments showed no AVN in the \u201cearly\u201d group. AVN were observed in 2 patients of the \u201clate\u201d group; one also had a splenic Gaucheroma. The follow-up examinations showed slight improvements in the BMB-score, DGS, and VDR, with similar tendencies in both treatment groups. The GD-DS3 score only improved in \u201clate\u201d group.<\/jats:p><jats:p>\nConclusion This retrospective study supported the ongoing clinical value of enzyme replacement therapy with alglucerase\/imiglucerase, as WB-MRI-based scores stayed constant or slightly improved even after long-term treatment. Secondary complications were only observed in the late treatment group. Our results suggest that \u201cearly initiation\u201d of enzyme replacement therapy may protect the bone.<\/jats:p>","DOI":"10.1055\/a-0788-8795","type":"journal-article","created":{"date-parts":[[2018,11,27]],"date-time":"2018-11-27T23:39:28Z","timestamp":1543361968000},"page":"52-59","source":"Crossref","is-referenced-by-count":3,"title":["Retrospective Analysis of Whole-Body Magnetic Resonance Imaging of Bone Manifestations in Long-Term Treated Patients with Gaucher Disease Type 1"],"prefix":"10.1055","volume":"231","author":[{"given":"Andr\u00e9","family":"Lollert","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology, Section of Pediatric Radiology, Medical Center of the Johannes Gutenberg University, Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katharina","family":"Laudemann","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology, Section of Pediatric Radiology, Medical Center of the Johannes Gutenberg University, Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugen","family":"Mengel","sequence":"additional","affiliation":[{"name":"Center of Pediatrics and Adolescent Medicine, Villa Metabolica, Medical Center of the Johannes Gutenberg University, Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Hoffmann","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology, Section of Pediatric Radiology, Medical Center of the Johannes Gutenberg University, Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Larissa","family":"Moos","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology, Section of Pediatric Radiology, Medical Center of the Johannes Gutenberg University, Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00f6rg","family":"Reinke","sequence":"additional","affiliation":[{"name":"Center of Pediatrics and Adolescent Medicine, Villa Metabolica, Medical Center of the Johannes Gutenberg University, Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam","family":"Brixius-Huth","sequence":"additional","affiliation":[{"name":"Center of Pediatrics and Adolescent Medicine, Villa Metabolica, Medical Center of the Johannes Gutenberg University, Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Hennermann","sequence":"additional","affiliation":[{"name":"Center of Pediatrics and Adolescent Medicine, Villa Metabolica, Medical Center of the Johannes Gutenberg University, Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christoph","family":"D\u00fcber","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology, Medical Center of the Johannes Gutenberg University, Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gundula","family":"Staatz","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology, Section of Pediatric Radiology, Medical Center of the Johannes Gutenberg University, Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2018,11,27]]},"container-title":["Klinische P\u00e4diatrie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-0788-8795.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,3,14]],"date-time":"2019-03-14T23:42:49Z","timestamp":1552606969000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-0788-8795"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11,27]]},"references-count":0,"journal-issue":{"issue":"02","published-online":{"date-parts":[[2019,3,14]]},"published-print":{"date-parts":[[2019,3]]}},"URL":"https:\/\/doi.org\/10.1055\/a-0788-8795","relation":{},"ISSN":["0300-8630","1439-3824"],"issn-type":[{"value":"0300-8630","type":"print"},{"value":"1439-3824","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,11,27]]}}}