Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population

Abstract

Arylsulfatase A (ASA) is a lysosomal enzyme involved in the catabolism of cerebroside sulfate. ASA deficiency is associated with metachromatic leukodystrophy (MLD). Low ASA activities have also been reported in a more common condition with no apparent clinical consequences termed ASA pseudo-deficiency (ASA-PD) which is associated with two linked mutations… (More)
DOI: 10.1007/s10072-015-2417-5

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