{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T05:00:43Z","timestamp":1785301243484,"version":"3.55.0"},"reference-count":8,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T00:00:00Z","timestamp":1782000000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T00:00:00Z","timestamp":1782000000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Gaucher disease is a rare, autosomal recessive disease, with decreased activity of lysosomal glucocerebrosidase (GCase) due to changes in the\n                    <jats:italic>GBA1<\/jats:italic>\n                    gene. There is no cure for Gaucher disease, and standard treatment involves the use of enzyme replacement therapy or substrate reduction therapy. We describe the first case of Gaucher disease that was treated with an autologous transplant of lentivirus\u2010transduced CD34\n                    <jats:sup>+<\/jats:sup>\n                    cells. Enzyme therapy was stopped 4\u2009weeks prior to Day 0 of transplant. At 5\u2009years of follow\u2010up, dried blood spot GCase enzyme levels have remained in the normal range; there has been a consistent and sustained reduction of lyso\u2010GB1 and liver volume, and hematological indices such as leukocyte count, hemoglobin, and platelet count have remained in the normal range despite no additional therapy for the Gaucher disease. This case shows a sustained response to a single dose of lentiviral gene therapy for Gaucher disease.\n                  <\/jats:p>","DOI":"10.1002\/jimd.70221","type":"journal-article","created":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T01:10:21Z","timestamp":1782090621000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Gaucher Disease Treated With Lentiviral\u2010Mediated Gene Therapy: First Case"],"prefix":"10.1002","volume":"49","author":[{"given":"Mona","family":"Shafey","sequence":"first","affiliation":[{"name":"Division of Hematology &amp; Hematologic Malignancies, Department of Medicine University of Calgary Cumming School of Medicine  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Prokopishyn","sequence":"additional","affiliation":[{"name":"Alberta Precision Laboratories  Calgary Alberta Canada"},{"name":"Department of Diagnostics and Laboratory Medicine University of Calgary Cumming School of Medicine  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8131-7947","authenticated-orcid":false,"given":"Aneal","family":"Khan","sequence":"additional","affiliation":[{"name":"M.A.G.I.C. Clinic (Metabolics and Genetics in Canada)  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,21]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1615\/CritRevOncog.2013006060"},{"issue":"3","key":"e_1_2_12_3_1","article-title":"Enzyme Replacement and Substrate Reduction Therapy for Gaucher Disease","volume":"2015","author":"Shemesh E.","year":"2015","journal-title":"Cochrane Database of Systematic Reviews"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2016.08.009"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2015.16"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/FTD.0b013e31826051bb"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2017.02.020"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2018.09.017"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ctm2.70073"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.70221","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jimd.70221","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.70221","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T04:18:22Z","timestamp":1785298702000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.70221"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,21]]},"references-count":8,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1002\/jimd.70221"],"URL":"https:\/\/doi.org\/10.1002\/jimd.70221","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,21]]},"assertion":[{"value":"2026-01-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-29","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70221"}}