{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:34:29Z","timestamp":1760783669129},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,4,1]],"date-time":"2013-04-01T00:00:00Z","timestamp":1364774400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CP Human Genetics"],"published-print":{"date-parts":[[2013,4]]},"abstract":"Abstract<\/jats:title>Fabry disease (FD) is an X\u2010linked lysosomal storage disorder due to deficiency of alpha galactosidase A (GLA). Progressive, intralysosomal accumulation of neutral glycosphingolipids in endothelial cells and podocytes leads to multi\u2010organ involvement in affected males and to a lesser extent in affected females. Diagnosis of FD is based on GLA analysis in leukocytes or dried blood spots (DBS) in FD males while GLA activities may be within the normal range in FD females. The advent of fluorometric and mass spectrometry methods for enzyme analysis in DBS has simplified the diagnostic approach for FD males, facilitating high\u2010throughput screening of at risk populations and newborn infants. However, the diagnostic mainstay for FD females remains molecular analysis of the GLA<\/jats:italic> gene. The following unit will provide the detailed analytical protocol for measurement of GLA activity in DBS using tandem mass spectrometry. Curr. Protoc. Hum. Genet<\/jats:italic>. 77:17.13.1\u201017.13.7. \u00a9 2013 by John Wiley & Sons, Inc.<\/jats:p>","DOI":"10.1002\/0471142905.hg1713s77","type":"journal-article","created":{"date-parts":[[2013,4,17]],"date-time":"2013-04-17T15:11:57Z","timestamp":1366211517000},"source":"Crossref","is-referenced-by-count":1,"title":["Diagnosing Lysosomal Storage Disorders: Fabry Disease"],"prefix":"10.1002","volume":"77","author":[{"given":"Olaf A.","family":"Bodamer","sequence":"first","affiliation":[{"name":"Division of Clinical and Translational Genetics, Dr. John T. MacDonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine Miami Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Britt","family":"Johnson","sequence":"additional","affiliation":[{"name":"Division of Clinical and Translational Genetics, Dr. John T. MacDonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine Miami Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Dajnoki","sequence":"additional","affiliation":[{"name":"Division of Clinical and Translational Genetics, Dr. John T. 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