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Medical Information Services For information on obtaining the services listed below, or for other information, contact Genzyme Belgium. Telephone +32 2 714 17 11 Or mail requests to: Enzyme Assay Diagnostic Service: The diagnosis of Fabry disease is confirmed by the assay of the deficient enzyme alpha-galactosidase A. Blood samples are the most practical way to test enzyme activity in the plasma or leukocytes. GL-3 Testing Service Clearance of the accumulating substrate globotriaosylceramide (GL-3) can serve as a surrogate marker of treatment response. Genotyping Service Because Fabry disease is an X-linked inherited lysosomal storage disorder, genotyping can be a valuable tool for investigating family pedigrees and confirming the diagnosis in carriers. Literature and Presentations on Fabry disease Genzyme's Fabry Literature Database contains thousands publications. For a partial listing of references, refer to the bibliography or contact Genzyme Belgium at the number listed above. Contact your local Genzyme representative or e-mail us for a copy of our CD-ROM, which contains Fabry presentations in PowerPoint format. |
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