Article
Metachromatic leukodystrophy among southern Alaskan Eskimos: molecular and genetic studies.
Journal of inherited metabolic disease - 1 Jan 1995
Pastor-Soler N M, Schertz E M, Rafi M A, de Gala G, Wenger D A
Abstract excerpt
Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder resulting from the inability to metabolize sulphatide, an important component of myelin. Although there is significant clinical variability between patients, most have the late-infantile form. It is one of the most common lysosomal disorders involving mental deterioration and is found throughout the world. The great majority of the cases have a...
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