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A closer look at ARSA activity in a patient with metachromatic leukodystrophy
(Molecular Genetics and Metabolism Reports, 2019-06)
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes ...