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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 Pompe disease is confirmed by the assay of the deficient enzyme alpha-glucosidase. The enzyme activity can be tested in fibroblasts or leukocytes. Genotyping Service Pompe disease is an autosomal recessive disorder. DNA analysis can be a valuable tool for investigating family pedigrees. Presentations on Pompe disease Contact your local Genzyme representative or e-mail us for a copy of our CD-ROM, which contains Pompe presentations in PowerPoint format. |
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