Background— Fabry disease (FD) is an X-linked disorder of lysosomal metabolism affecting
multiple organs with cardiac disease being the leading cause of death. Current imaging …

Primary hyperparathyroidism is a common condition that affects 0.3% of the general
population. Primary and tertiary care specialists can encounter patients with primary …

Fabry disease is a rare lysosomal storage disorder (LSD). We designed multiple recombinant
lentivirus vectors (LVs) and tested their ability to engineer expression of human α-…

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 …

Fabry disease is an X-linked lysosomal storage disease characterized by the development
of hypertrophic cardiomyopathy, nephropathy with chronic renal failure and stroke. This …

Enzyme and chaperone therapies are used to treat Fabry disease. Such treatments are
expensive and require intrusive biweekly infusions; they are also not particularly efficacious. In …

Background Two recombinant enzymes (agalsidase alfa 0.2 mg/kg/every other week and
agalsidase beta 1.0 mg/kg/every other week) have been registered for the treatment of Fabry …

Pompe disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid
alpha-glucosidase. Patients have skeletal muscle and respiratory weakness with or without …

Background Fabry cardiomyopathy is characterized by progressive left ventricular hypertrophy
(LVH) associated with diastolic dysfunction and is the most common cause of death in …

We hypothesized that overall disease activity or the severity of involvement of individual
disease compartments, as measured by clinical and surrogate markers, predict the risk of …