Article
Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland.
European neurology - 1 Jan 2000
Lugowska A, Czartoryska B, Tylki-Szymańska A, Bisko M, Zimowski J G, Berger J, Molzer B
Abstract excerpt
Arylsulfatase A (ASA) pseudodeficiency (PD) allele was searched for in 22 patients originating from Poland and suffering from different types of metachromatic leukodystrophy (MLD). Four of them carried the PD allele in a heterozygous state. The prevalence of the PD allele among investigated MLD patients was revealed to be 9%, while the frequency of the PD allele in healthy controls was estimated at 6-7%. One of...
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