Metachromatic leukodystrophy (MLD) is a fatal, progressive neurodegenerative disorder
caused by biallelic pathogenic mutations in the ARSA (Arylsulfatase A) gene. With the …

Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) is
characterized by three clinical subtypes: late-infantile, juvenile, and adult MLD. The age of …

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

Background For decades, early allogeneic stem cell transplantation (HSCT) has been used
to slow neurological decline in metachromatic leukodystrophy (MLD). There is lack of …

Metachromatic leukodystrophy (MLD) is a devastating rare neurodegenerative disease.
Typically, loss of motor and cognitive skills precedes early death. The disease is …

There is discussion of expanding newborn screening (NBS) through the use of genomic
sequence data; yet, challenges remain in the interpretation of DNA variants. Population …

Continued advances in variant effect prediction are necessary to demonstrate the ability of
machine learning methods to accurately determine the clinical impact of variants of unknown …

Next-generation sequencing (NGS) has revolutionized genetic diagnostics, yet its
application in precision medicine remains incomplete, despite significant advances in …

Metachromatic leukodystrophy (MLD) is a progressive demyelinating disorder resulting from
the toxic accumulation of sulfatides. The stereotyped neurodegeneration of MLD is well …

Hypomyelinating leukodystrophy-17 is a neurodevelopmental disorder caused by
autosomal recessive mutations in the AIMP2 gene, resulting in a lack of myelin deposition …