Fabry pedigree analysis: A successful program for targeted genetic approach
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DOI: 10.1002/mgg3.794
Abstract: Fabry disease (FD) is an X‐linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha‐galactosidase A (GLA). FD is still an underdiagnosed disorder worldwide. Moreover, there is delay between symptom onset… read more here.
Keywords: targeted genetic; analysis successful; fabry pedigree; pedigree analysis ... See more keywords