Browsing Genetic Medicne by Author "Pruthi, Sumit"
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Doherty, Kathleen; Frazier, S. Barron; Clark, Matthew; Childers, Anna; Pruthi, Sumit; Wenger, David A.; Duis, Jessica (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 ...