{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T08:33:59Z","timestamp":1768984439934,"version":"3.49.0"},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2007,8,20]],"date-time":"2007-08-20T00:00:00Z","timestamp":1187568000000},"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":[[2007,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Aim:<\/jats:title><jats:p>This study reports the first evaluation of therapeutic response in Romanian patients with Gaucher disease type I, after therapy with Cerezyme recently became available in our country.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and methods:<\/jats:title><jats:p>24 patients (11\u201350 years) received Cerezyme 20\u201360 U\/kg every two weeks for at least 18 months. Haemoglobin, platelet count, volume of the liver and spleen, plasma chitotriosidase and the severity score were assessed every 6 months; skeletal radiography and osteodensitometry were also monitored.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Eleven patients were splenectomized before start of therapy. Eight patients had anaemia (mean haemoglobin 9.4 g\/dl) and 14 patients, of whom 13 were without splenectomy, had thrombocytopenia (mean 65 692\/mm<jats:sup>3<\/jats:sup>). Haemoglobin values normalized after 6 months and the platelet count increased to 147 818\/mm<jats:sup>3<\/jats:sup> after 18 months of treatment. Splenomegaly improved (mean 13.8\u00d7 to 5.6\u00d7 normal), hepatomegaly improved (mean 1.4\u00d7 to 1.06\u00d7 normal), the severity score decreased (mean 15.9 to 8.4), plasma chitotriosidase levels showed a reduction from 40 956 to 11 266 nmol\/h per ml plasma. Bone disease improved clinically in all patients; bone radiography and osteodensitometry showed no further disease progress. We observed a mean weight gain of 4.3 kg, an improvement in quality of life, and the absence of therapeutic adverse events.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>Enzyme replacement therapy administered for 18 months in Romanian patients with Gaucher disease type I led to a marked improvement in haematological parameters and hepato\u2010 and splenomegaly. In the majority of patients we observed no further progress of bone disease; for an improvement in skeletal disease, a longer treatment period is required.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-007-0621-z","type":"journal-article","created":{"date-parts":[[2007,8,16]],"date-time":"2007-08-16T19:57:18Z","timestamp":1187294238000},"page":"783-789","source":"Crossref","is-referenced-by-count":14,"title":["Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience"],"prefix":"10.1002","volume":"30","author":[{"given":"P. Grigorescu","family":"Sido","sequence":"first","affiliation":[{"name":"1st Pediatric Clinic Iuliu Hatieganu University of Medicine and Pharmacy Cluj 68 Motilor str., CP 494, of Cluj 1 Cluj 400370 Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Drugan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Iuliu Hatieganu University of Medicine and Pharmacy Cluj Cluj Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Cret","sequence":"additional","affiliation":[{"name":"1st Pediatric Clinic Iuliu Hatieganu University of Medicine and Pharmacy Cluj 68 Motilor str., CP 494, of Cluj 1 Cluj 400370 Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Al\u2010Kzouz","sequence":"additional","affiliation":[{"name":"1st Pediatric Clinic Iuliu Hatieganu University of Medicine and Pharmacy Cluj 68 Motilor str., CP 494, of Cluj 1 Cluj 400370 Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Denes","sequence":"additional","affiliation":[{"name":"1st Pediatric Clinic Iuliu Hatieganu University of Medicine and Pharmacy Cluj 68 Motilor str., CP 494, of Cluj 1 Cluj 400370 Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Coldea","sequence":"additional","affiliation":[{"name":"1st Pediatric Clinic Iuliu Hatieganu University of Medicine and Pharmacy Cluj 68 Motilor str., CP 494, of Cluj 1 Cluj 400370 Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Zimmermann","sequence":"additional","affiliation":[{"name":"1st Clinic of Internal Medicine, Department of Endocrinology and Metabolic Diseases Johannes Gutenberg University of Mainz Mainz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,8,20]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0950-3536(97)80034-0"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000153660.88672.3C"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279398"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(90)90130-K"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.23.10544"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.40.25680"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.160.18.2835"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)91414-6"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-12-5072"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200845"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0121-6"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2003.08.006"},{"issue":"6","key":"e_1_2_1_14_1","first-page":"480","article-title":"La maladie de Gaucher","volume":"5","author":"Germain D","year":"1999","journal-title":"H\u00e9matologie"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1445-5994.2004.00765.x"},{"key":"e_1_2_1_16_1","volume-title":"Gaucher Disease: Diagnosis, Evaluation and Treatment","author":"Grabowski GA","year":"1994"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.1997.1.5"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117084"},{"issue":"9","key":"e_1_2_1_19_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_1_20_1","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.1998.0172"},{"key":"e_1_2_1_21_1","unstructured":"International Collaborative Gaucher Group:Gaucher Registry 2004 Annual Report.http:\/\/www.lsdregistry.net\/gaucherregistry\/."},{"key":"e_1_2_1_22_1","unstructured":"International Collaborative Gaucher Group:Gaucher Registry 2005 Annual Report.http:\/\/www.lsdregistry.net\/gaucherregistry\/."},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2004.07.009"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-9861(76)90547-6"},{"issue":"3","key":"e_1_2_1_25_1","first-page":"189","article-title":"Alglucerase treatment of type I Gaucher's disease. 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