{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T20:40:22Z","timestamp":1790282422990,"version":"4.1.0"},"reference-count":26,"publisher":"The Royal Society","issue":"1433","license":[{"start":{"date-parts":[[2003,5,29]],"date-time":"2003-05-29T00:00:00Z","timestamp":1054166400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/royalsociety.org\/journals\/ethics-policies\/data-sharing-mining\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Phil. Trans. R. Soc. Lond. B"],"published-print":{"date-parts":[[2003,5,29]]},"abstract":"<jats:p>\n                    Gaucher disease is caused by an enzymatic defect with consequent accumulation of glucocerebroside. Type I, the non\u2013neuronopathic form, is rather common and panethnic. Patients may present with hepatosplenomegaly, anaemia, thrombocytopenia and skeletal or lung involvement. Enzyme replacement therapy ameliorates disease symptoms and signs; however, it involves lifelong intravenous therapy, is costly and is incapable of crossing the blood\u2013brain barrier. Substrate reduction with\n                    <jats:italic>N<\/jats:italic>\n                    \u2013butyldeoxynojirimycin (OGT 918) is a harbinger of oral iminosugars for glycolipid storage disorders. Long\u2013term data in the seminal trial (100 mg three times per day), demonstrate safety and efficacy in adult type I patients naive to enzyme therapy, and suggest its application in patients unwilling or unable to receive enzyme replacement and tolerating side effects, including diarrhoea, weight loss, tremor and peripheral neuropathy (mostly reversible with dose reduction or withdrawal). Dose dependency was demonstrated with 50 mg three times per day. In patients stabilized on enzyme therapy switched from or in combination with enzyme, no deterioration in disease parameters was seen but side effects were as above. Although efficacy is less dramatic than enzyme treatment, it may be that plateaux are achieved asymptotically so therapeutic outcomes with OGT 918 may ultimately be comparable. Yet, given the above side effects and the lack of long\u2013term experience, patients with very mild manifestations would probably not be appropriate candidates.\n                  <\/jats:p>","DOI":"10.1098\/rstb.2003.1272","type":"journal-article","created":{"date-parts":[[2003,9,9]],"date-time":"2003-09-09T11:27:32Z","timestamp":1063106852000},"page":"961-966","source":"Crossref","is-referenced-by-count":63,"title":["Gaucher disease and the clinical experience with substrate reduction therapy"],"prefix":"10.1098","volume":"358","author":[{"given":"Ari","family":"Zimran","sequence":"first","affiliation":[{"name":"Gaucher Clinic, Shaare Zedek Medical Centre, PO Box 3235, 1 Besek Road, Jerusalem 91031, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Elstein","sequence":"additional","affiliation":[{"name":"Gaucher Clinic, Shaare Zedek Medical Centre, PO Box 3235, 1 Besek Road, Jerusalem 91031, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"175","published-online":{"date-parts":[[2003,5,29]]},"reference":[{"key":"p_1","doi-asserted-by":"publisher","DOI":"10.2174\/1389200013338414"},{"key":"p_2","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2003.1273"},{"key":"p_3","unstructured":"Barranger J. 2002 Improvements in enzyme replacement therapy. In National Organization for Rare Disorders (NORD) Conf. 11-13 October Arlington VA."},{"key":"p_4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199105233242104"},{"key":"p_5","unstructured":"Beutler E. & Grabowski G. A. 2001 Gaucher disease. In The metabolic and molecular bases of inherited diseases vol. III (ed. C. R. Scriver D. Valle A. Beudet & W. S. Sly) pp. 3635-3668. New York: McGraw-Hill."},{"key":"p_6","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2003.1269"},{"key":"p_7","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2003.1278"},{"key":"p_8","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02161-9"},{"key":"p_9","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-125-11-199612010-00005"},{"key":"p_10","doi-asserted-by":"publisher","DOI":"10.1080\/08880010290097143"},{"key":"p_11","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(98)10194-0"},{"key":"p_12","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2000.02177.x"},{"key":"p_13","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/94.8.407"},{"key":"p_14","doi-asserted-by":"publisher","DOI":"10.1016\/S0950-3536(97)80032-7"},{"key":"p_15","doi-asserted-by":"publisher","DOI":"10.1016\/S0268-960X(98)90023-6"},{"key":"p_16","doi-asserted-by":"publisher","DOI":"10.1159\/000203562"},{"key":"p_17","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.2002.0497"},{"key":"p_18","unstructured":"Lee R. E. 1982 The pathology of Gaucher disease. In Gaucher disease: a century of delineation and research (ed. R. J. Desnick S. Gatt & G. A. Grabowski) pp. 177-217. New York: Alan R. Liss."},{"key":"p_19","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2003.1271"},{"key":"p_20","doi-asserted-by":"crossref","first-page":"8362","DOI":"10.1016\/S0021-9258(17)37202-2","article-title":"N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis","volume":"269","author":"Platt F. M.","year":"1994","journal-title":"J. Biol. Chem."},{"key":"p_21","doi-asserted-by":"publisher","DOI":"10.1126\/science.276.5311.428"},{"key":"p_22","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2003.1279"},{"key":"p_23","doi-asserted-by":"publisher","DOI":"10.1007\/BF00731489"},{"key":"p_24","doi-asserted-by":"publisher","DOI":"10.1097\/00042560-199510050-00008"},{"key":"p_25","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(02)01150-6"},{"key":"p_26","first-page":"674","article-title":"Alendronate disodium improves bone mineral density in adults receiving enzyme replacement therapy (ERT) for Gaucher disease [abstract]","volume":"69","author":"Wenstrup R. J.","year":"2001","journal-title":"Am. J. Hum. Genet."}],"container-title":["Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/royalsocietypublishing.org\/doi\/pdf\/10.1098\/rstb.2003.1272","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/royalsocietypublishing.org\/doi\/pdf\/10.1098\/rstb.2003.1272","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T21:22:09Z","timestamp":1778620929000},"score":1,"resource":{"primary":{"URL":"http:\/\/royalsocietypublishing.org\/rstb\/article\/358\/1433\/961-966\/20200"}},"subtitle":[],"editor":[{"given":"R. A.","family":"Dwek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]},{"given":"T. D.","family":"Butters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]},{"given":"F. 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