Article
Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?
PloS one - 1 Jan 2011
Ługowska Agnieszka, Ponińska Joanna, Krajewski Paweł, Broda Grażyna, Płoski Rafał
Abstract excerpt
BACKGROUND: Metachromatic leukodystrophy (MLD) is a severe neurometabolic disease caused mainly by deficiency of arylsulfatase A encoded by the ARSA gene. Based on epidemiological surveys the incidence of MLD per 100,000 live births varied from 0.6 to 2.5. Our purpose was to estimate the birth prevalence of MLD in Poland by determining population frequency of the common pathogenic ARSA gene mutations and to...
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