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Fabry''s disease |
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| Authors: | Lis,Hasholt ,Annelise,Wandall Sven Asger Sø rensen |
| Affiliation: | University Institute of Medical Genetics, Copenhagen, Denmark. |
| Abstract: | Fifteen hemizygotes and 30 heterozygotes have been diagnosed since our investigations of Fabry's disease were started 10 years ago. They belong mainly to three Danish families. Genetic counseling and prenatal diagnoses have been performed, and in vitro studies of cultured fibroblasts and endothelial cells have been made with special reference to enzyme therapy. |
| Keywords: | alpha-galactosidase A deficiency enzyme correction genetic heterogeneity prenatal diagnosis |