Article
Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency.
Molecular and cellular biochemistry - 9 Feb 1990
Ameen M, Lazzarino D A, Kelly B M, Gabel C A, Chang P L
Abstract excerpt
Deficient arylsulfatase-A activity is diagnostic of a neurodegenerative human lysosomal storage disease, metachromatic leukodystrophy. Paradoxically, similar enzyme deficiency also occurs in normal individuals, who are known as being pseudo arylsulfatase-A deficient. We showed previously that this phenotype is associated with a structural gene mutation that produces an exceptionally labile enzyme. We now report...
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