{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T18:00:59Z","timestamp":1772042459512,"version":"3.50.1"},"reference-count":0,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,8,10]],"date-time":"2007-08-10T00:00:00Z","timestamp":1186704000000},"content-version":"vor","delay-in-days":9,"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":[[2007,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Anderson\u2013Fabry disease is an X\u2010linked disorder that is caused by deficiency of the lysosomal enzyme \u03b1\u2010galactosidase A. Symptoms include chronic progressive painful small\u2010fibre neuropathy, cornea verticillata, renal failure and heart disease. Interestingly, female heterozygous patients may also show severe symptoms. After clinical suspicion, usually the determination of \u03b1\u2010galactosidase activity in leukocytes is requested first. Alternatively, an enzymatic assay using dried blood specimens has been described. Dried blood samples require less material and are substantially more stable (several months at room temperature) than whole\u2010blood specimens. To validate the new method and to asses its usefulness for diagnosis of female patients, enzyme activities of \u03b1\u2010galactosidase, \u03b2\u2010galactosidase and \u03b2\u2010glucuronidase from 78 known Fabry patients were compared (29 males, 47 females) between both materials. In summary, the determination of \u03b1\u2010galactosidase activity using dried blood and leukocytes as well as the ratio of \u03b1\u2010galactosidase to \u03b2\u2010glucuronidase in dried blood can improve the diagnostic specificity in cases of female patients who are difficult to identify when only leukocyte enzyme activities are considered.<\/jats:p>","DOI":"10.1007\/s10545-007-0679-7","type":"journal-article","created":{"date-parts":[[2007,8,10]],"date-time":"2007-08-10T11:46:18Z","timestamp":1186746378000},"page":"614-614","source":"Crossref","is-referenced-by-count":18,"title":["Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patients"],"prefix":"10.1002","volume":"30","author":[{"given":"Z.","family":"Lukacs","sequence":"first","affiliation":[{"name":"Institute of Clinical Chemistry and Deparment of Pediatrics Hamburg University Medical Center Hamburg Germany"},{"name":"Universit\u00e4tsklinikum Hamburg\u2010Eppendorf Diagnostikzentrum, Martinistra\u00dfe 52 Hamburg 20246 Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Hartung","sequence":"additional","affiliation":[{"name":"Villa Metabolica University Hospital Mainz Mainz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Beck","sequence":"additional","affiliation":[{"name":"Villa Metabolica University Hospital Mainz Mainz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Keil","sequence":"additional","affiliation":[{"name":"Institute of Clinical Chemistry and Deparment of Pediatrics Hamburg University Medical Center Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Mengel","sequence":"additional","affiliation":[{"name":"Villa Metabolica University Hospital Mainz Mainz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,8,10]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0679-7","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0679-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:34:25Z","timestamp":1694752465000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-007-0679-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,8]]},"references-count":0,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2007,8]]}},"alternative-id":["10.1007\/s10545-007-0679-7"],"URL":"https:\/\/doi.org\/10.1007\/s10545-007-0679-7","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,8]]}}}