{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,10]],"date-time":"2023-11-10T17:50:28Z","timestamp":1699638628629},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1978,6,22]],"date-time":"1978-06-22T00:00:00Z","timestamp":267321600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1979,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The identification of female carriers of Fabry's disease is important for genetic counselling since prenatal diagnosis of affected fetuses is possible. The activities of either total \u03b1\u2010galactosidase or \u03b1\u2010galactosidase A in cultured fibroblasts were similar in Fabry carriers and controls and cannot therefore be used for carrier detection. Better discrimination between carriers and controls was found when total \u03b1\u2010galactosidase activity was expressed as a ratio to \u03b2\u2010galactosidase activity, but overlap still occurred. However, there was complete discrimination between the ratio of \u03b1\u2010galactosidase A to \u03b2\u2010galactosidase in cultured fibroblasts from five carriers of Fabry's disease and either 11 controls, seven hemizygote affected males or two of their female relatives.<\/jats:p>","DOI":"10.1007\/bf01805555","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T21:51:25Z","timestamp":1119909085000},"page":"9-12","source":"Crossref","is-referenced-by-count":10,"title":["Fibroblast \u03b1\u2010galactosidase a activity for identification of Fabry's disease heterozygotes"],"prefix":"10.1002","volume":"2","author":[{"given":"A. H.","family":"Fensom","sequence":"first","affiliation":[{"name":"Paediatric Research Unit, The Prince Philip Research Laboratories Guy's Hospital Medical School  London SE1 9RT"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. F.","family":"Benson","sequence":"additional","affiliation":[{"name":"Paediatric Research Unit, The Prince Philip Research Laboratories Guy's Hospital Medical School  London SE1 9RT"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. Ronayne","family":"Grant","sequence":"additional","affiliation":[{"name":"Paediatric Research Unit, The Prince Philip Research Laboratories Guy's Hospital Medical School  London SE1 9RT"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Jacobs","sequence":"additional","affiliation":[{"name":"Paediatric Research Unit, The Prince Philip Research Laboratories Guy's Hospital Medical School  London SE1 9RT"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1978,6,22]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb01178.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.172.3979.174"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(77)80136-8"},{"key":"e_1_2_1_5_1","first-page":"209","volume-title":"The Eye and Inborn Errors of Metabolism. The National Foundation \u2014 March of Dimes. 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