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Identification and Assessment of Anderson-Fabry Disease by Cardiovascular Magnetic Resonance Noncontrast Myocardial T1 Mapping
Background— Anderson-Fabry disease (AFD) is a rare but underdiagnosed intracellular lipid disorder that can cause left ventricular hypertrophy (LVH). Lipid is known to shorten the magnetic resonanceExpand
Effects of enzyme replacement therapy on the cardiomyopathy of Anderson–Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa
Background: Anderson–Fabry disease is an X-linked glycosphingolipid storage disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A. This leads to a progressive accumulationExpand
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells
Heterozygous GBA gene mutations are the most frequent Parkinson’s disease risk factor. Using Parkinson’s disease patient derived fibroblasts McNeill et al. show that heterozygous GBA mutations reduceExpand
Natural history of Fabry disease in females in the Fabry Outcome Survey
Background: Fabry disease is a rare X linked lysosomal storage disorder resulting from deficiency of α-galactosidase A activity. Although the severity of clinical features in male patients is wellExpand
Cardiovascular magnetic resonance measurement of myocardial extracellular volume in health and disease
Objective To measure and assess the significance of myocardial extracellular volume (ECV), determined non-invasively by equilibrium contrast cardiovascular magnetic resonance, as a clinical biomarkerExpand
The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders.
OBJECTIVES To determine natural history and estimate effectiveness and cost of enzyme replacement therapy (ERT) and substrate replacement therapy (SRT) for patients with Gaucher disease, FabryExpand
Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage
Highlights ► Glucocerebrosidase gene mutations are a risk factor for Parkinson’s disease. ► Glucocerebrosidase inhibition causes mitochondrial dysfunction & oxidative stress. ► These changes parallelExpand
Divalent cation-independent macrophage adhesion inhibited by monoclonal antibody to murine scavenger receptor
MACROPHAGES interact with other cells and components of the extracellular environment by means of adhesion receptors1,2. Adhesion to artificial substrata in vitro facilitates isolation ofExpand
Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease.
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme alpha-galactosidase A. More than 60% of patients with AFD have evidence for cardiacExpand
Osseous Manifestations of Adult Gaucher Disease in the Era of Enzyme Replacement Therapy
Enzyme replacement therapy (ERT) for Gaucher disease with mannose-terminated glucocerebrosidase has proved its therapeutic position with salutary effects on hematologic abnormalities, visceralExpand