{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:15Z","timestamp":1761717975607},"reference-count":4,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,9,1]],"date-time":"2005-09-01T00:00:00Z","timestamp":1125532800000},"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":[[2005,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Female heterozygous patients with Fabry disease are difficult to identify because of the relatively high residual activity of \u03b1\u2010galactosidase. We systematically evaluated the activities of various lysosomal enzymes in dried blood samples from Fabry patients and found that the \u03b2\u2010glucuronidase activity was frequently elevated. The ratio of \u03b1\u2010galactosidase to \u03b2\u2010glucuronidase proved to be a helpful tool for the diagnosis of female Fabry disease patients.<\/jats:p>","DOI":"10.1007\/s10545-005-0039-4","type":"journal-article","created":{"date-parts":[[2005,9,7]],"date-time":"2005-09-07T19:05:23Z","timestamp":1126119923000},"page":"803-805","source":"Crossref","is-referenced-by-count":20,"title":["The ratio of \u03b1\u2010galactosidase to \u03b2\u2010glucuronidase activities in dried blood for the identification of female Fabry disease patients"],"prefix":"10.1002","volume":"28","author":[{"given":"Z.","family":"Lukacs","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Metabolic Laboratory University Hospital Hamburg\u2010Eppendorf  Hamburg"},{"name":"Department of Paediatrics, Metabolic Laboratory University Hospital Hamburg\u2010Eppendorf  Martinistr. 52 Hamburg 20246 Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Keil","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Metabolic Laboratory University Hospital Hamburg\u2010Eppendorf  Hamburg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Kohlsch\u00fctter","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Metabolic Laboratory University Hospital Hamburg\u2010Eppendorf  Hamburg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Beck","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Metabolic Laboratory University Hospital Hamburg\u2010Eppendorf  Hamburg"},{"name":"Department of Paediatrics University Hospital Mainz  Mainz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Mengel","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Metabolic Laboratory University Hospital Hamburg\u2010Eppendorf  Hamburg"},{"name":"Department of Paediatrics University Hospital Mainz  Mainz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,9]]},"reference":[{"issue":"1","key":"e_1_2_1_2_1","first-page":"173","article-title":"Leucocyte \u03b2\u2010d\u2010glucuronidase (GCR) as a marker of enzyme replacement therapy (ERT) in Fabry disease","volume":"27","author":"Burlina AB","year":"2004","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"e_1_2_1_3_1","first-page":"167","article-title":"Screening for female Fabry disease patients using whole blood spots fails to identify one\u2010third of patients","volume":"27","author":"Linthorst GE","year":"2004","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012447102358"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(81)90384-3"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0039-4","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0039-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T01:12:42Z","timestamp":1694740362000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-0039-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,9]]},"references-count":4,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,9]]}},"alternative-id":["10.1007\/s10545-005-0039-4"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-0039-4","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,9]]}}}