Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA
gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life …

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 …

Dried blood spots (DBS) typically consist in the deposition of small volumes of capillary
blood onto dedicated paper cards. Comparatively to whole blood or plasma samples, their …

Background The interest in neonatal screening for lysosomal storage disorders has
increased substantially because of newly developed enzyme replacement therapies, the …

Purpose We conducted a consented pilot newborn screening (NBS) for Pompe, Gaucher,
Niemann–Pick A/B, Fabry, and MPS 1 to assess the suitability of these lysosomal storage …

Objective To evaluate the performance of a statewide full-population pilot study in Missouri
on newborn blood spots for screening of lysosomal storage disorders (LSDs) using digital …

Neurological disorders–disorders of the brain, spine and associated nerves–are a leading
contributor to global disease burden with a shockingly large associated economic cost …

Background Gaucher disease (GD) is the most common lysosomal storage disorder (LSD).
Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide …

Diseases in the central nervous system (CNS) are often difficult to treat. Antibody-and
protein-based therapeutics hold huge promises in CNS disease treatment. However …

Pompe disease (GSD II) is an autosomal recessive disorder caused by deficiency of the
lysosomal enzyme acid-a-glucosidase (GAA; EC 3.2. 1.20), leading to generalized …