Metachromatic leukodystrophy is a lysosomal storage disease, which is characterized by
damage of the myelin sheath that covers most of nerve fibers of the central and peripheral …

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

Abstract Background Metachromatic Leukodystrophy (MLD) is a rare lysosomal disorder.
Patients suffer from relentless neurological deterioration leading to premature death …

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

Disorders of intracellular trafficking are a group of inherited disorders, which often display
multisystem phenotypes. Vacuolar protein sorting (VPS) subunit C, composed of VPS11 …

Abstract Background Metachromatic leukodystrophy (MLD; OMIM 250100 and 249900) is a
rare lysosomal storage disease caused by deficient arylsulfatase A activity, leading to …

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

Background and Objectives Next-generation sequencing (NGS) has expedited the
diagnostic process and unearthed many rare disorders in leukodystrophy (LD) and genetic …

Biallelic variants in PLEKHG5 have been reported so far associated with different clinical
phenotypes including Lower motor neuron disease (LMND)[also known as distal hereditary …

Background: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal
disorder due to the deficiency of arylsulfatase A enzyme. Materials and Methods: This is a …