Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a
lysosomal enzyme deficiency or malfunction, which leads to the accumulation of …

Background Fabry disease is caused by α-galactosidase A deficiency. Substrates of this
lysosomal enzyme accumulate, resulting in cellular dysfunction. Patients experience …

Abstract Background Lysosomal storage diseases (LSDs) are inborn errors of metabolism
resulting from 50 different inherited disorders. The increasing availability of treatments and …

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 …

Fabry disease (FD), a rare X‐linked disease, can be treated with bi‐monthly infusion of
enzyme replacement therapy (ERT) to replace deficient α‐galactosidase A (AGAL‐A). ERT …

Introduction: Gaucher disease, the autosomal recessive deficiency of the lysosomal enzyme
glucocerebrosidase, is associated with wide phenotypic diversity including non …

Disturbances of lipid homeostasis in cells provoke human diseases. The elucidation of the
underlying mechanisms and the development of efficient therapies represent formidable …

Purpose The implementation of newborn screening for lysosomal disorders has uncovered
overall poor specificity, psychosocial harm experienced by caregivers, and costly follow-up …

Incidence and prevalence estimates for Gaucher disease (GD) are scarce for this rare
disease and can be variable within the same region. This review provides a qualitative …

Background Newborn screening (NBS) algorithms for cystic fibrosis (CF) vary in the United
State of America and include different cystic fibrosis transmembrane conductance regulator …