{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T01:10:17Z","timestamp":1773105017554,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,10,25]],"date-time":"2017-10-25T00:00:00Z","timestamp":1508889600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100013995","name":"Sanofi Genzyme","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100013995","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Gaucher disease type 1 (GD1, OMIM# 230800), is a condition with high impact in patient's quality of life (QoL). We report the improvement in QoL of children with GD1 measured by Lansky play\u2010performance scale (LS) after enzymatic replacement therapy (ERT) and to describe our experience in the treatment of children with GD1.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Five children with diagnosis of GD1 received imiglucerase 60\u00a0mg\/kg every two weeks. LS, hepatomegaly, splenomegaly, hemoglobin, platelets, and growth rate were measured every 6\u00a0months after beginning ERT for 30\u00a0months.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>After ERT, LS increased significantly from 28\u00a0\u00b1\u00a016.48 points before ERT to 70\u00a0\u00b1\u00a010 (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.0046) and 95\u00a0\u00b1\u00a010 (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.0022) points after 6 and 30\u00a0months of ERT, respectively; hemoglobin and platelets changed significantly from 9.28\u00a0\u00b1\u00a00.61 to 12.40\u00a0\u00b1\u00a00.85 (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.0198) and from 71.50\u00a0\u00b1\u00a014.89 to 205.00\u00a0\u00b1\u00a065.34 (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.0428) after 30\u00a0months of ERT, respectively. All patients demonstrated decreased hepatic and splenic size with mean reductions of 66% and 80% at 30\u00a0months of treatment and the USG longitudinal axis was reduced in both liver and spleen after ERT.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The use of ERT with imiglucerase 60\u00a0mg\/kg every two weeks has substantial benefits and significantly improves QoL, assessed with Lansky Score, of the five children with GD1 studied.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.339","type":"journal-article","created":{"date-parts":[[2017,10,25]],"date-time":"2017-10-25T23:06:38Z","timestamp":1508972798000},"page":"27-34","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in children with Gaucher disease type 1"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0330-585X","authenticated-orcid":false,"given":"Magdalena","family":"Cer\u00f3n\u2010Rodr\u00edguez","sequence":"first","affiliation":[{"name":"Department of Lysosomal Diseases Hospital Infantil de M\u00e9xico Federico G\u00f3mez Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edgar","family":"Barajas\u2010Col\u00f3n","sequence":"additional","affiliation":[{"name":"Department of Lysosomal Diseases Hospital Infantil de M\u00e9xico Federico G\u00f3mez Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lyuva","family":"Ram\u00edrez\u2010Devars","sequence":"additional","affiliation":[{"name":"Department of Lysosomal Diseases Hospital Infantil de M\u00e9xico Federico G\u00f3mez Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Guti\u00e9rrez\u2010Camacho","sequence":"additional","affiliation":[{"name":"Department of Education Hospital Infantil de M\u00e9xico Federico G\u00f3mez Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1194-1047","authenticated-orcid":false,"given":"Juan L.","family":"Salgado\u2010Loza","sequence":"additional","affiliation":[{"name":"SICODIC Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,10,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1008814105603"},{"key":"e_1_2_7_3_1","first-page":"792","article-title":"Report of the Spanish Gaucher's Disease Registry: clinical and genetic characteristics","volume":"85","author":"Giraldo P.","year":"2000","journal-title":"Haematologica"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11136-004-0794-y"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19871001)60:7<1651::AID-CNCR2820600738>3.0.CO;2-J"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1008859420641"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2012_136"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000005623.60471.51"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/00207411.1994.11449286"},{"key":"e_1_2_7_10_1","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1186\/s13023-014-0112-x","article-title":"Modelling Gaucher disease progression: long\u2010term enzyme replacement therapy reduces the incidence of splenectomy and bone complications","volume":"9","author":"Van Dussen L.","year":"2014","journal-title":"Orphanet J. 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