This review discusses the pathogenesis and management of coronary microvascular
dysfunction. Factors to consider in clinical management are the cause of the dysfunction and …

Cerebral small vessel disease (SVD) gives rise to one in five strokes worldwide and
constitutes a major source of cognitive decline in the elderly. SVD is known to occur in …

Purpose: Fabry disease is an X-linked lysosomal storage disorder caused by mutations in
the α-galactosidase A gene. Migalastat, a pharmacological chaperone, binds to specific …

Background Enzyme replacement therapy (ERT) with recombinant human α-galactosidase
has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the …

Background Fabry's disease, lysosomal α-galactosidase A deficiency, results from the
progressive accumulation of globotriaosylceramide and related glycosphingolipids. Affected …

In recent years, enzymes have risen as promising therapeutic tools for different pathologies,
from metabolic deficiencies, such as fibrosis conditions, ocular pathologies or joint …

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 …

Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the
GLA gene, which leads to a deficiency in α-galactosidase A. The consequent abnormal …

Fabry disease (-galactosidase A deficiency) is an X-linked recessive lysosomal storage
disorder. Although the disease presents in childhood and culminates in cardiac …

OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a
baseline for efficacy assessment of potentially therapeutic drugs. DESIGN The first large …