{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T23:37:43Z","timestamp":1783726663881,"version":"3.55.0"},"reference-count":31,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2006,9,13]],"date-time":"2006-09-13T00:00:00Z","timestamp":1158105600000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Exper Ophthalmology"],"published-print":{"date-parts":[[2006,9]]},"abstract":"<jats:title>A<jats:sc>bstract<\/jats:sc><\/jats:title><jats:p><jats:bold>Background:\u2002<\/jats:bold> Fabry disease is an X\u2010linked disorder due to a deficiency of \u03b1\u2010galactosidase A and leads to the accumulation of globotriaosylceramide (Gb3) in various cells. The detection of Gb3 deposits may help in the diagnosis. To date, no immunofluorescence\u2010specific detection of Gb3 in conjunctival biopsies has been reported. The aim of this work was to detect Gb3 accumulation in conjunctival biopsies from Fabry patients by immunofluorescence.<\/jats:p><jats:p><jats:bold>Methods:\u2002<\/jats:bold> Conjunctival biopsies taken from Fabry males and females, before and after enzyme replacement therapy, and normal controls were processed for immunofluorescence with a monoclonal antibody specific for Gb3.<\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold> Positive green immunofluorescence was observed in all biopsies from Fabry patients before enzyme replacement therapy. After 6\u2003months of treatment, immunofluorescence in blood vessels was not observed.<\/jats:p><jats:p><jats:bold>Conclusions:\u2002<\/jats:bold> Immunofluorescence detection of Gb3 in conjunctival biopsies may be a reliable method for the diagnosis of Fabry disease in family members, and to evaluate effectiveness of enzyme replacement therapy.<\/jats:p>","DOI":"10.1111\/j.1442-9071.2006.01318.x","type":"journal-article","created":{"date-parts":[[2006,9,13]],"date-time":"2006-09-13T09:34:28Z","timestamp":1158140068000},"page":"689-694","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Immunofluorescence detection of globotriaosylceramide deposits in conjunctival biopsies of Fabry disease patients"],"prefix":"10.1111","volume":"34","author":[{"given":"Paula A","family":"Rozenfeld","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oscar","family":"Croxatto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Ebner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos A","family":"Fossati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,9,13]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196705252762101"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.167.3922.1268"},{"key":"e_1_2_6_4_2","first-page":"2741","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Desnick RJ","year":"1995"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1965.00970040762005"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-1678"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.750"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012993305223"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1076\/opge.24.3.129.15609"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-9071.2005.00990.x"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0181-5512(05)81024-1"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-003-1299-3"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.285.21.2743"},{"key":"e_1_2_6_14_2","first-page":"157","article-title":"Fabry\u2019s disease: enzymatic diagnosis of hemyzigotes and heterozygotes. \u03b1\u2010Galactosidase A activities in plasma, serum, urine and leukocytes","volume":"81","author":"Desnick RJ","year":"1973","journal-title":"J Lab Clin Med"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(01)00478-8"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.2.91"},{"key":"e_1_2_6_17_2","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/S0022-2275(20)43219-5","article-title":"Biochemical and clinical analysis of accumulated glycolipids in symptomatic heterozygotes of angiokeratoma corporis diffusum (Fabry\u2019s disease) in comparison with hemizygotes","volume":"31","author":"Hozumi I","year":"1990","journal-title":"J Lipid Res"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)43013-5"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.10.1139"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1971.00990050171010"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(72)90071-2"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.3109\/13816818509006132"},{"key":"e_1_2_6_23_2","first-page":"135","article-title":"Sex chromatin and gene action in the mammalian X\u2010chromosome","volume":"14","author":"Lyon MF","year":"1962","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2004.01.035"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9327"},{"key":"e_1_2_6_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.2910480610"},{"key":"e_1_2_6_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/0304-4165(92)90168-T"},{"key":"e_1_2_6_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(96)00241-X"},{"key":"e_1_2_6_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/0272-6386(95)90061-6"},{"key":"e_1_2_6_30_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2005.06732.x"},{"key":"e_1_2_6_31_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2002.00675.x"},{"key":"e_1_2_6_32_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2004.22425.x"}],"container-title":["Clinical &amp; Experimental Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1442-9071.2006.01318.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1442-9071.2006.01318.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T04:43:19Z","timestamp":1696912999000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1442-9071.2006.01318.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,9]]},"references-count":31,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2006,9]]}},"alternative-id":["10.1111\/j.1442-9071.2006.01318.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1442-9071.2006.01318.x","archive":["Portico"],"relation":{},"ISSN":["1442-6404","1442-9071"],"issn-type":[{"value":"1442-6404","type":"print"},{"value":"1442-9071","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,9]]},"assertion":[{"value":"2006-09-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}