{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:03:46Z","timestamp":1790708626918,"version":"4.1.0"},"reference-count":27,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["QJM"],"published-print":{"date-parts":[[2004,4,1]]},"DOI":"10.1093\/qjmed\/hch036","type":"journal-article","created":{"date-parts":[[2004,3,17]],"date-time":"2004-03-17T18:48:54Z","timestamp":1079549334000},"page":"199-204","source":"Crossref","is-referenced-by-count":120,"title":["Twin pairs showing discordance of phenotype in adult Gaucher's disease"],"prefix":"10.1093","volume":"97","author":[{"given":"R.H.","family":"Lachmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.R.","family":"Grant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Halsall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.M.","family":"Cox","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2004,3,17]]},"reference":[{"issue":"7","key":"1_5005000","doi-asserted-by":"publisher","first-page":"854","DOI":"10.1136\/adc.63.7.854","volume":"63","author":"Lui","year":"1988","journal-title":"Archives of Disease in Childhood","ISSN":"https:\/\/id.crossref.org\/issn\/0003-9888","issn-type":"print"},{"issue":"4","key":"2_5917081","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1016\/S0950-3536(97)80035-2","volume":"10","author":"Erikson","year":"1997","journal-title":"Bailli&#x00A0;&#x00A0;re's clinical haematology","ISSN":"https:\/\/id.crossref.org\/issn\/0950-3536","issn-type":"print"},{"issue":"4","key":"3_5917079","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1016\/S0950-3536(97)80033-9","volume":"10","author":"Cox","year":"1997","journal-title":"Bailli&#x00A0;&#x00A0;re's clinical haematology","ISSN":"https:\/\/id.crossref.org\/issn\/0950-3536","issn-type":"print"},{"issue":"8659","key":"5_5346169","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/S0140-6736(89)90536-9","volume":"2","author":"Zimran","year":"1989","journal-title":"Lancet","ISSN":"https:\/\/id.crossref.org\/issn\/0140-6736","issn-type":"print"},{"issue":"6","key":"6_10249817","first-page":"1094","volume":"52","author":"Sibille","year":"1993","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"8798","key":"7_9783452","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1016\/0140-6736(92)90928-V","volume":"339","author":"Mistry","year":"1992","journal-title":"Lancet","ISSN":"https:\/\/id.crossref.org\/issn\/0140-6736","issn-type":"print"},{"issue":"2","key":"8_11080223","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1006\/bcmd.2001.0410","volume":"27","author":"Torralba","year":"2001","journal-title":"Blood cells, molecules &amp; diseases","ISSN":"https:\/\/id.crossref.org\/issn\/1079-9796","issn-type":"print"},{"issue":"6","key":"9_10622968","doi-asserted-by":"publisher","first-page":"1777","DOI":"10.1086\/302925","volume":"66","author":"Koprivica","year":"2000","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"4","key":"10_5917078","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/S0950-3536(97)80032-7","volume":"10","author":"Grabowski","year":"1997","journal-title":"Bailli&#x00A0;&#x00A0;re's clinical haematology","ISSN":"https:\/\/id.crossref.org\/issn\/0950-3536","issn-type":"print"},{"issue":"1","key":"11_10140942","first-page":"85","volume":"52","author":"Beutler","year":"1993","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"5","key":"12_16179011","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1007\/BF02436006","volume":"18","author":"Michelakakis","year":"1995","journal-title":"Journal of inherited metabolic disease","ISSN":"https:\/\/id.crossref.org\/issn\/0141-8955","issn-type":"print"},{"issue":"5","key":"13_5807903","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<348::AID-HUMU3>3.0.CO;2-B","volume":"10","author":"Boot","year":"1997","journal-title":"Human mutation","ISSN":"https:\/\/id.crossref.org\/issn\/1059-7794","issn-type":"print"},{"issue":"10","key":"14_14045756","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1056\/NEJM198703053161002","volume":"316","author":"Tsuji","year":"1987","journal-title":"New England Journal of Medicine","ISSN":"https:\/\/id.crossref.org\/issn\/0028-4793","issn-type":"print"},{"issue":"1","key":"15_14685719","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1002\/humu.1380030105","volume":"3","author":"Sidransky","year":"1994","journal-title":"Human mutation","ISSN":"https:\/\/id.crossref.org\/issn\/1059-7794","issn-type":"print"},{"issue":"1-2","key":"16_10956296","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1007\/s004390051073","volume":"105","author":"Ida","year":"1999","journal-title":"Human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0340-6717","issn-type":"print"},{"issue":"9","key":"17_16137544","doi-asserted-by":"publisher","first-page":"1577","DOI":"10.1002\/elps.11501601261","volume":"16","author":"Jeffreys","year":"1995","journal-title":"Electrophoresis","ISSN":"https:\/\/id.crossref.org\/issn\/0173-0835","issn-type":"print"},{"issue":"6","key":"18_10072247","first-page":"1229","volume":"51","author":"Allen","year":"1992","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"19_25210893","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1159\/000112185","volume":"13","year":"1991","journal-title":"DEVELOPMENTAL NEUROSCI"},{"issue":"1","key":"20_14685716","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/humu.1380030102","volume":"3","author":"Horowitz","year":"1994","journal-title":"Human mutation","ISSN":"https:\/\/id.crossref.org\/issn\/1059-7794","issn-type":"print"},{"issue":"1","key":"21_35386325","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1093\/qjmed\/90.1.19","volume":"90","year":"1997","journal-title":"QJM","ISSN":"https:\/\/id.crossref.org\/issn\/0033-5622","issn-type":"print"},{"issue":"1","key":"22_10734213","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1097\/00043426-199901000-00013","volume":"21","author":"Eapen","year":"1999","journal-title":"Journal of pediatric hematology\/oncology : official journal of the American Society of Pediatric Hematology\/Oncology","ISSN":"https:\/\/id.crossref.org\/issn\/1077-4114","issn-type":"print"},{"issue":"2","key":"24_11080207","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1006\/bcmd.2001.0392","volume":"27","author":"Pines","year":"2001","journal-title":"Blood cells, molecules &amp; diseases","ISSN":"https:\/\/id.crossref.org\/issn\/1079-9796","issn-type":"print"},{"issue":"6","key":"25_10622973","doi-asserted-by":"publisher","first-page":"1729","DOI":"10.1086\/302938","volume":"66","author":"Dipple","year":"2000","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"7269","key":"27_10536011","doi-asserted-by":"publisher","first-page":"1117","DOI":"10.1136\/bmj.321.7269.1117","volume":"321","author":"Weatherall","year":"2000","journal-title":"BMJ","ISSN":"https:\/\/id.crossref.org\/issn\/0959-8138","issn-type":"print"},{"issue":"2","key":"28_16124492","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1006\/bcmd.1995.0012","volume":"21","author":"Beutler","year":"1995","journal-title":"Blood cells, molecules &amp; diseases","ISSN":"https:\/\/id.crossref.org\/issn\/1079-9796","issn-type":"print"},{"issue":"1","key":"30_6027758","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1006\/bcmd.1998.0172","volume":"24","author":"Ida","year":"1998","journal-title":"Blood cells, molecules &amp; diseases","ISSN":"https:\/\/id.crossref.org\/issn\/1079-9796","issn-type":"print"},{"issue":"1","key":"31_6477506","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1023\/A:1005655031239","volume":"23","author":"Maaswinkel-Mooij","year":"2000","journal-title":"Journal of inherited metabolic disease","ISSN":"https:\/\/id.crossref.org\/issn\/0141-8955","issn-type":"print"}],"container-title":["QJM"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/qjmed\/article-pdf\/97\/4\/199\/4373476\/hch036.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,23]],"date-time":"2017-08-23T23:54:16Z","timestamp":1503532456000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/qjmed\/article-lookup\/doi\/10.1093\/qjmed\/hch036"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,3,17]]},"references-count":27,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2004,3,17]]},"published-print":{"date-parts":[[2004,4,1]]}},"URL":"https:\/\/doi.org\/10.1093\/qjmed\/hch036","relation":{},"ISSN":["1460-2725","1460-2393"],"issn-type":[{"value":"1460-2725","type":"print"},{"value":"1460-2393","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,3,17]]}}}