Article
Arylsulfatase A pseudodeficiency--incidence in Poland.
European journal of human genetics : EJHG - 1 Jan 1996
Czartoryska B, Zimowski J G, Bisko M, Górska D
Abstract excerpt
Arylsulfatase A (ASA) pseudodeficiency (Pd) was defined as the in vitro measurement of low enzyme activity in a healthy person. A variable incidence of the Pd allele was found in different populations; it was 10-20 times higher than that of metachromatic leukodystrophy (MLD). In Poland we estimated the incidence of the Pd allele at 6% and that of isolated 1788 mutation (loss of glycosylation site) at 3%. Out of 8...
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