Background Gaucher disease, a rare disorder, is caused by inherited deficiency of the
enzyme glucocerebrosidase. It is unique among the ultra‐orphan disorders in that four …

Gaucher disease (GD) is a rare, genetic lysosomal disorder leading to lipid accumulation
and dysfunction in multiple organs. Involvement of the skeleton is one of the most prevalent …

The scientific and therapeutic development of imiglucerase (Cerezyme®) by the Genzyme
Corporation is a paradigm case for a critical examination of current trends in biotechnology …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

Background Fabry disease is an X-linked lysosomal storage disorder caused by GLA
mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal …

Introduction Fabry disease (FD) is a lysosomal storage disorder resulting in progressive
nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or …

Background Lysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks
down endocytosed lipid particles and regulates lipid metabolism. We conducted a phase 3 …

Objective: The aim of this study was to characterize key clinical manifestations of lysosomal
acid lipase deficiency (LAL D) in children and adults. Methods: Investigators reviewed …

PURPOSE:: Gaucher disease is an exemplary orphan disorder. Enzyme replacement
therapy with imiglucerase is effective, but very expensive. To improve the assessment of …

Background Pompe disease is a rare disorder characterised by progressive loss of muscle
and respiratory function due to acid α-glucosidase deficiency. Enzyme replacement therapy …