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

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

Human mitochondrial disorders impact tissues with high energetic demands and can be
associated with cardiac muscle disease (cardiomyopathy) and early mortality. However, the …

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 …

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 …

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 …

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

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 …

Background Because systemic inflammation and endothelial dysfunction lead to heart
failure with preserved ejection fraction, we characterized plasma levels of inflammatory and …