Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships?
{{output}}
Metachromatic leukodystrophy (MLD) is a recessive autosomal disease which is biochemically characterized by an accumulation of sulfatides (sulfogalactosylceramides) mainly in oligodendrocytes and macrophages/microglia. The deficient enzyme is a lysosomal hydro... ...
