Article
Molecular genetics of metachromatic leukodystrophy.
Journal of inherited metabolic disease - 1 Jan 1994
Gieselmann V, Polten A, Kreysing J, von Figura K
Abstract excerpt
Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulphatase A. The disease is characterized by a progressive demyelination that causes a variety of neurological symptoms. Patients die within a few years after the age of onset. Clinically the disease is heterogeneous and according to the age of onset three different forms can be distinguished. The gene of arylsulphatase...
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