MOLECULAR MEDICINE, vol.5, no.12, pp.806-811, 1999 (SCI-Expanded)
Background: Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase alpha-galactosidase A (EC 3.2.1.22; ct-Gal A). The nature of the molecular lesions in the oc-Gal A gene in 30 unrelated families was determined to provide precise heterozygote detection, prenatal diagnosis, and define genotype-phenotype correlations.