Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic
disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its …

Metachromatic leukodystrophy (MLD) is a neurodegenerative lysosomal storage disorder
caused by biallelic pathogenic variants in the gene encoding arylsulfatase A. Disease onset …

Unstable proteins are prone to form non-native interactions with other proteins and thereby
may become toxic. To mitigate this, destabilized proteins are targeted by the protein quality …

Metachromatic leukodystrophy (MLD), a fatal disorder caused by deficiency of the lysosomal
enzyme arylsulfatase A (ARSA), is associated with an accumulation of sulfatides, causing …

Canavan disease is an autosomal recessive and lethal neurological disorder, characterized
by the spongy degeneration of the white matter in the brain. The disease is caused by a …

The purpose of this study was to determine whether transplantation of umbilical cord blood
from unrelated donors before the development of symptoms could halt the progression of …

Canavan disease (CD) is a rare leukodystrophy characterized by diffuse spongiform white
matter degeneration, dysmyelination and intramyelinic oedema with consequent impairment …

Fucosidosis is a rare lysosomal storage disease caused by α-fucosidase deficiency, which
leads to progressive neurological deterioration and death. Hematopoietic stem cell …

Introduction Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal
storage disorder resulting from arylsulfatase A enzyme deficiency, leading to toxic sulfatide …

Lysosomal storage diseases (LSDs) is a group consisting of over 50 disorders caused
mostly by dysfunctions of lysosomal proteins and resultant accumulation of particular …